Dysmorphology

Congenital malformations (“birth defects”) remain a leading cause of infant mortality and childhood morbidity. We offer comprehensive and rapid testing options, including analysis of genome-wide copy number alterations. Testing can provide your patients with a clear diagnosis of inherited malformation and intellectual disability syndromes.

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CentoDysmorph

CentoDysmorph is designed to help physicians diagnose patients that suffer from a dysmorphic syndrome. The panel includes craniosynostosis, craniofacial disorders, cleft / lip palate, holoprosencephaly, Waardenburg syndrome, Hirschsprung disease, lissencephaly, and brain malformation disorders, among others.

Additionally, CentoDysmorph includes genes related to RASopathies. RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components or regulators of the RAS / mitogen-activated protein kinase (MAPK) pathway. This panel includes genes related to neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation-arteriovenous malformation syndrome, Costello syndrome, Cardio-Facio- Cutaneous syndrome, and Legius syndrome, among others. Tuberous sclerosis and McCune Albright syndromes.

No. of genes:	776
TAT:	25 business days
Coverage:	≥99.00% ≥20x
Details:	NGS including CNV analysis

Order now Sample Requirements

Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
A2ML1	610627	Otitis media, susceptibility to	AD
ABCA12	607800	Ichthyosis, congenital, autosomal recessive 4A	AR
ABCA12	607800	Ichthyosis, congenital, autosomal recessive 4B (harlequin)	AR
ABCB6	605452	Microphthalmia, isolated, with coloboma 7	AD
		[Blood group, Langereis system]	-
		Dyschromatosis universalis hereditaria 3	AD
		Pseudohyperkalemia, familial, 2, due to red cell leak	AD
ABCC6	603234	Pseudoxanthoma elasticum, forme fruste	AD
		Arterial calcification, generalized, of infancy, 2	AR
		Pseudoxanthoma elasticum	AR
ABL1	189980	Congenital heart defects and skeletal malformations syndrome	AD
ABL1	189980	Leukemia, Philadelphia chromosome-positive, resistant to imatinib	SM
ACP5	171640	Spondyloenchondrodysplasia with immune dysregulation	AR
ACTA1	102610	Nemaline myopathy 3, autosomal dominant or recessive	AD, AR
		?Myopathy, scapulohumeroperoneal	AD
		Myopathy, congenital, with fiber-type disproportion 1	AD, AR
		Myopathy, actin, congenital, with cores	AD, AR
		Myopathy, actin, congenital, with excess of thin myofilaments	AD, AR
ACTA2	102620	Aortic aneurysm, familial thoracic 6	AD
		Moyamoya disease 5	-
		Multisystemic smooth muscle dysfunction syndrome	AD
ACTB	102630	Baraitser-Winter syndrome 1	AD
ACTB	102630	?Dystonia, juvenile-onset	AD
ACTG1	102560	Baraitser-Winter syndrome 2	AD
ACTG1	102560	Deafness, autosomal dominant 20/26	AD
ACVR2B	602730	Heterotaxy, visceral, 4, autosomal	-
ADAMTS18	607512	Microcornea, myopic chorioretinal atrophy, and telecanthus	AR
ADAMTS2	604539	Ehlers-Danlos syndrome, dermatosparaxis type	AR
ADAMTSL2	612277	Geleophysic dysplasia 1	AR
ADGRG1	604110	Polymicrogyria, bilateral perisylvian	-
ADGRG1	604110	Polymicrogyria, bilateral frontoparietal	AR
ADGRG6	612243	Lethal congenital contracture syndrome 9	AR
AEBP1	602981	Ehlers-Danlos syndrome, classic-like, 2	AR
AFF4	604417	CHOPS syndrome	AD
AGPS	603051	Rhizomelic chondrodysplasia punctata, type 3	AR
AGRN	103320	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects	AR
AHDC1	615790	Xia-Gibbs syndrome	AD
AHI1	608894	Joubert syndrome 3	AR
AKR1C4	600451	46XY sex reversal 8, modifier of	AR
AKT3	611223	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	AD
ALDH18A1	138250	Cutis laxa, autosomal dominant 3	AD
		Cutis laxa, autosomal recessive, type IIIA	AR
		Spastic paraplegia 9B, autosomal recessive	AR
		Spastic paraplegia 9A, autosomal dominant	AD
ALDH1A3	600463	Microphthalmia, isolated 8	AR
ALG2	607905	?Congenital disorder of glycosylation, type Ii	AR
ALG2	607905	Myasthenic syndrome, congenital, 14, with tubular aggregates	AR
ALPL	171760	Hypophosphatasia, infantile	AR
		Odontohypophosphatasia	AD, AR
		Hypophosphatasia, childhood	AR
		Hypophosphatasia, adult	AD, AR
ALX1	601527	Frontonasal dysplasia 3	AR
ALX4	605420	Craniosynostosis 5, susceptibility to	AD
		Parietal foramina 2	AD
		Frontonasal dysplasia 2	AR
AMELX	300391	Amelogenesis imperfecta, type 1E	XLD
AMER1	300647	Osteopathia striata with cranial sclerosis	XLD
AMH	600957	Persistent Mullerian duct syndrome, type I	AR
AMHR2	600956	Persistent Mullerian duct syndrome, type II	AR
AMPD2	102771	?Spastic paraplegia 63	AR
AMPD2	102771	Pontocerebellar hypoplasia, type 9	AR
ANKH	605145	Chondrocalcinosis 2	AD
ANKH	605145	Craniometaphyseal dysplasia	AD
ANKLE2	616062	Microcephaly 16, primary, autosomal recessive	AR
ANKRD11	611192	KBG syndrome	AD
ANKS6	615370	Nephronophthisis 16	AR
ANO5	608662	Gnathodiaphyseal dysplasia	AD
		Muscular dystrophy, limb-girdle, autosomal recessive 12	AR
		Miyoshi muscular dystrophy 3	AR
ANOS1	300836	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)	XLR
AP4M1	602296	Spastic paraplegia 50, autosomal recessive	AR
ARFGEF2	605371	Periventricular heterotopia with microcephaly	AR
ARHGAP31	610911	Adams-Oliver syndrome 1	AD
ARID1A	603024	Coffin-Siris syndrome 2	AD
ARID1B	614556	Coffin-Siris syndrome 1	AD
ARID2	609539	Coffin-Siris syndrome 6	AD
ARL13B	608922	Joubert syndrome 8	AR
ARL3	604695	Retinitis pigmentosa 83	AD
ARL3	604695	Joubert syndrome 35	AR
ARL6	608845	Retinitis pigmentosa 55	AR
		Bardet-Biedl syndrome 1, modifier of	AR, DR
		Bardet-Biedl syndrome 3	AR
ARSL	300180	Chondrodysplasia punctata, X-linked recessive	XLR
ARX	300382	Developmental and epileptic encephalopathy 1	XLR
		Mental retardation, X-linked 29 and others	XLR
		Hydranencephaly with abnormal genitalia	XL
		Partington syndrome	XLR
		Lissencephaly, X-linked 2	XL
		Proud syndrome	XL
ASPM	605481	Microcephaly 5, primary, autosomal recessive	AR
ASXL1	612990	Bohring-Opitz syndrome	AD
ASXL1	612990	Myelodysplastic syndrome, somatic	-
ASXL3	615115	Bainbridge-Ropers syndrome	AD
ATP6V0A2	611716	Cutis laxa, autosomal recessive, type IIA	AR
ATP6V0A2	611716	Wrinkly skin syndrome	AR
ATP6V0A4	605239	Distal renal tubular acidosis 3, with or without sensorineural hearing loss	AR
ATP6V1A	607027	Epileptic encephalopathy, infantile or early childhood, 3	AD
ATP6V1A	607027	Cutis laxa, autosomal recessive, type IID	AR
ATP6V1E1	108746	Cutis laxa, autosomal recessive, type IIC	AR
ATP7A	300011	Menkes disease	XLR
		Occipital horn syndrome	XLR
		Spinal muscular atrophy, distal, X-linked 3	XLR
ATR	601215	?Cutaneous telangiectasia and cancer syndrome, familial	AD
ATR	601215	Seckel syndrome 1	AR
ATRX	300032	Mental retardation-hypotonic facies syndrome, X-linked	XLR
		Alpha-thalassemia/mental retardation syndrome	XLD
		Alpha-thalassemia myelodysplasia syndrome, somatic	-
B3GALNT2	610194	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11	AR
B3GAT3	606374	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	AR
B3GLCT	610308	Peters-plus syndrome	AR
B4GALT7	604327	Ehlers-Danlos syndrome, spondylodysplastic type, 1	AR
B4GAT1	605517	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13	AR
B9D1	614144	?Meckel syndrome 9	AR
B9D1	614144	Joubert syndrome 27	AR
B9D2	611951	?Meckel syndrome 10	AR
B9D2	611951	Joubert syndrome 34	AR
BBS1	209901	Bardet-Biedl syndrome 1	AR, DR
BBS10	610148	Bardet-Biedl syndrome 10	AR
BBS12	610683	Bardet-Biedl syndrome 12	AR
BBS2	606151	Bardet-Biedl syndrome 2	AR
BBS2	606151	Retinitis pigmentosa 74	AR
BBS4	600374	Bardet-Biedl syndrome 4	AR
BBS5	603650	Bardet-Biedl syndrome 5	AR
BBS7	607590	Bardet-Biedl syndrome 7	AR
BBS9	607968	Bardet-Biedl syndrome 9	AR
BCL11A	606557	Dias-Logan syndrome	AD
BCOR	-	Microphthalmia, syndromic 2	XLD
BGN	301870	Meester-Loeys syndrome	XL
BGN	301870	Spondyloepimetaphyseal dysplasia, X-linked	XLR
BIN1	601248	Centronuclear myopathy 2	AR
BMP1	112264	Osteogenesis imperfecta, type XIII	AR
BMP2	112261	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	AD
		HFE hemochromatosis, modifier of	AR
		Brachydactyly, type A2	AD
BMP4	112262	Microphthalmia, syndromic 6	AD
BMP4	112262	Orofacial cleft 11	-
BMPR1B	603248	Brachydactyly, type A2	AD
		Acromesomelic dysplasia, Demirhan type	AR
		Brachydactyly, type A1, D	AD
BNC2	608669	Lower urinary tract obstruction, congenital	AD
BRAF	164757	Cardiofaciocutaneous syndrome	AD
		Adenocarcinoma of lung, somatic	-
		Noonan syndrome 7	AD
		Colorectal cancer, somatic	-
		Melanoma, malignant, somatic,	-
		LEOPARD syndrome 3	AD
C1R	613785	Ehlers-Danlos syndrome, periodontal type, 1	AD
C1S	120580	C1s deficiency	-
C1S	120580	Ehlers-Danlos syndrome, periodontal type, 2	AD
CANT1	613165	Desbuquois dysplasia 1	AR
CANT1	613165	Epiphyseal dysplasia, multiple, 7	AR
CASK	300172	Mental retardation, with or without nystagmus	-
		Mental retardation and microcephaly with pontine and cerebellar hypoplasia	XLD
		FG syndrome 4	-
CASR	601199	Epilepsy idiopathic generalized, susceptibility to, 8	-
		Hypocalcemia, autosomal dominant, with Bartter syndrome	AD
		Hypocalciuric hypercalcemia, type I	AD
		Hyperparathyroidism, neonatal	AD, AR
		Hypocalcemia, autosomal dominant	AD
CBL	165360	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	AD
CBL	165360	?Juvenile myelomonocytic leukemia	AD, SM
CBS	613381	Thrombosis, hyperhomocysteinemic	AR
CBS	613381	Homocystinuria, B6-responsive and nonresponsive types	AR
CC2D2A	612013	Meckel syndrome 6	AR
		Retinitis pigmentosa 93	AR
		Joubert syndrome 9	AR
		COACH syndrome 2	AR
CCDC103	614677	Ciliary dyskinesia, primary, 17	AR
CCDC28B	610162	Bardet-Biedl syndrome 1, modifier of	AR, DR
CCDC39	613798	Ciliary dyskinesia, primary, 14	AR
CCDC40	613799	Ciliary dyskinesia, primary, 15	AR
CCDC65	611088	Ciliary dyskinesia, primary, 27	AR
CCM2	607929	Cerebral cavernous malformations-2	AD
CCN6	603400	Progressive pseudorheumatoid dysplasia	AR
CCNO	607752	Ciliary dyskinesia, primary, 29	AR
CDC45	603465	Meier-Gorlin syndrome 7	AR
CDH1	192090	Prostate cancer, susceptibility to	AD, SM
		Breast cancer, lobular	AD, SM
		Blepharocheilodontic syndrome 1	AD
		Ovarian cancer, somatic	-
		Gastric cancer, hereditary diffuse, with or without cleft lip and/or palate	AD
		Endometrial carcinoma, somatic	-
CDK13	603309	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	AD
CDK5RAP2	608201	Microcephaly 3, primary, autosomal recessive	AR
CDKN1C	600856	IMAGE syndrome	AD
CDKN1C	600856	Beckwith-Wiedemann syndrome	AD
CDON	608707	Holoprosencephaly 11	AD
CENPF	600236	Stromme syndrome	AR
CENPJ	609279	?Seckel syndrome 4	AR
CENPJ	609279	Microcephaly 6, primary, autosomal recessive	AR
CEP135	611423	Microcephaly 8, primary, autosomal recessive	AR
CEP152	613529	Microcephaly 9, primary, autosomal recessive	AR
CEP152	613529	Seckel syndrome 5	AR
CEP164	614848	Nephronophthisis 15	AR
CEP290	610142	Leber congenital amaurosis 10	-
		Meckel syndrome 4	AR
		?Bardet-Biedl syndrome 14	AR
		Senior-Loken syndrome 6	AR
		Joubert syndrome 5	AR
CEP41	610523	Joubert syndrome 15	AR
CEP63	614724	?Seckel syndrome 6	AR
CFAP298	615494	Ciliary dyskinesia, primary, 26	AR
CFAP418	614477	Retinitis pigmentosa 64	AR
		Cone-rod dystrophy 16	AR
		Bardet-Biedl syndrome 21	AR
CFAP53	614759	Heterotaxy, visceral, 6, autosomal recessive	AR
CFL2	-	Nemaline myopathy 7, autosomal recessive	AR
CHAT	118490	Myasthenic syndrome, congenital, 6, presynaptic	AR
CHD4	603277	Sifrim-Hitz-Weiss syndrome	AD
CHD7	608892	CHARGE syndrome	AD
CHD7	608892	Hypogonadotropic hypogonadism 5 with or without anosmia	AD
CHMP1A	164010	Pontocerebellar hypoplasia, type 8	AR
CHRNA1	100690	Myasthenic syndrome, congenital, 1B, fast-channel	AD, AR
		Myasthenic syndrome, congenital, 1A, slow-channel	AD
		Multiple pterygium syndrome, lethal type	AR
CHRNB1	100710	Myasthenic syndrome, congenital, 2A, slow-channel	AD
CHRNB1	100710	?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	AR
CHRND	100720	?Myasthenic syndrome, congenital, 3A, slow-channel	AD
		Myasthenic syndrome, congenital, 3B, fast-channel	AR
		Multiple pterygium syndrome, lethal type	AR
		?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	AR
CHRNE	100725	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	AR
		Myasthenic syndrome, congenital, 4A, slow-channel	AD, AR
		Myasthenic syndrome, congenital, 4B, fast-channel	AR
CHRNG	100730	Multiple pterygium syndrome, lethal type	AR
CHRNG	100730	Escobar syndrome	AR
CHST14	608429	Ehlers-Danlos syndrome, musculocontractural type 1	AR
CHST3	603799	Spondyloepiphyseal dysplasia with congenital joint dislocations	AR
CHSY1	608183	Temtamy preaxial brachydactyly syndrome	AR
CILK1	612325	Endocrine-cerebroosteodysplasia	AR
CILK1	612325	Epilepsy, juvenile myoclonic, susceptibility to, 10	AD
CIT	605629	Microcephaly 17, primary, autosomal recessive	AR
CLCN5	300008	Nephrolithiasis, type I	XLR
		Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis	XLR
		Dent disease	XLR
		Hypophosphatemic rickets	XLR
CLP1	608757	Pontocerebellar hypoplasia, type 10	AR
CNOT1	604917	Holoprosencephaly 12, with or without pancreatic agenesis	AD
CNOT1	604917	Vissers-Bodmer syndrome	AD
CNTNAP1	602346	Lethal congenital contracture syndrome 7	AR
CNTNAP1	602346	Hypomyelinating neuropathy, congenital, 3	AR
COASY	609855	Neurodegeneration with brain iron accumulation 6	AR
COASY	609855	Pontocerebellar hypoplasia, type 12	AR
COG5	606821	Congenital disorder of glycosylation, type IIi	AR
COL10A1	120110	Metaphyseal chondrodysplasia, Schmid type	AD
COL11A1	120280	Marshall syndrome	AD
		Fibrochondrogenesis 1	AR
		Lumbar disc herniation, susceptibility to	-
		?Deafness, autosomal dominant 37	AD
		Stickler syndrome, type II	AD
COL11A2	120290	Deafness, autosomal recessive 53	AR
		Otospondylomegaepiphyseal dysplasia, autosomal recessive	AR
		Fibrochondrogenesis 2	AD, AR
		Otospondylomegaepiphyseal dysplasia, autosomal dominant	AD
		Deafness, autosomal dominant 13	AD
COL12A1	120320	?Ullrich congenital muscular dystrophy 2	AR
COL12A1	120320	Bethlem myopathy 2	AD
COL13A1	120350	Myasthenic syndrome, congenital, 19	AR
COL1A1	120150	Ehlers-Danlos syndrome, arthrochalasia type, 1	AD
		Bone mineral density variation QTL, osteoporosis	AD
		Osteogenesis imperfecta, type III	AD
		Osteogenesis imperfecta, type I	AD
		Caffey disease	AD
		Osteogenesis imperfecta, type IV	AD
		Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	AD
		Osteogenesis imperfecta, type II	AD
COL1A2	120160	Osteoporosis, postmenopausal	AD
		Ehlers-Danlos syndrome, cardiac valvular type	AR
		Ehlers-Danlos syndrome, arthrochalasia type, 2	AD
		Osteogenesis imperfecta, type III	AD
		Osteogenesis imperfecta, type IV	AD
		Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	AD
		Osteogenesis imperfecta, type II	AD
COL2A1	120140	Legg-Calve-Perthes disease	AD
		Stickler syndrome, type I	AD
		Osteoarthritis with mild chondrodysplasia	AD
		Platyspondylic skeletal dysplasia, Torrance type	AD
		Spondyloepiphyseal dysplasia, Stanescu type	AD
		Kniest dysplasia	AD
		Czech dysplasia	AD
		Stickler sydrome, type I, nonsyndromic ocular	AD
		?Vitreoretinopathy with phalangeal epiphyseal dysplasia	AD
		?Epiphyseal dysplasia, multiple, with myopia and deafness	AD
		Avascular necrosis of the femoral head	AD
		Spondyloperipheral dysplasia	AD
		Achondrogenesis, type II or hypochondrogenesis	AD
		SMED Strudwick type	AD
		SED congenita	AD
COL3A1	120180	Ehlers-Danlos syndrome, vascular type	AD
COL3A1	120180	Polymicrogyria with or without vascular-type EDS	AR
COL4A1	120130	?Retinal arteries, tortuosity of	AD
		Hemorrhage, intracerebral, susceptibility to	-
		Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	AD
		Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	AD
		Brain small vessel disease with or without ocular anomalies	AD
COL5A1	120215	Fibromuscular dysplasia, multifocal	AD
COL5A1	120215	Ehlers-Danlos syndrome, classic type, 1	AD
COL5A2	120190	Ehlers-Danlos syndrome, classic type, 2	AD
COL6A1	120220	Bethlem myopathy 1	AD, AR
COL6A1	120220	Ullrich congenital muscular dystrophy 1	AD, AR
COL6A2	120240	Bethlem myopathy 1	AD, AR
		Ullrich congenital muscular dystrophy 1	AD, AR
		?Myosclerosis, congenital	AR
COL6A3	120250	Dystonia 27	AR
		Ullrich congenital muscular dystrophy 1	AD, AR
		Bethlem myopathy 1	AD, AR
COL9A1	120210	?Epiphyseal dysplasia, multiple, 6	AD
COL9A1	120210	Stickler syndrome, type IV	-
COL9A2	120260	?Stickler syndrome, type V	AR
COL9A2	120260	Epiphyseal dysplasia, multiple, 2	AD
COL9A3	120270	Epiphyseal dysplasia, multiple, 3, with or without myopathy	AD
		Intervertebral disc disease, susceptibility to	-
		Stickler syndrome, type VI	-
COLEC10	607620	3MC syndrome 3	AR
COLEC11	612502	3MC syndrome 2	AR
COLQ	603033	Myasthenic syndrome, congenital, 5	AR
COMP	600310	Carpal tunnel syndrome 2	AD
		Epiphyseal dysplasia, multiple, 1	AD
		Pseudoachondroplasia	AD
COX7B	300885	Linear skin defects with multiple congenital anomalies 2	XLD
CPLANE1	614571	Orofaciodigital syndrome VI	AR
CPLANE1	614571	Joubert syndrome 17	AR
CRB2	609720	Focal segmental glomerulosclerosis 9	AR
CRB2	609720	Ventriculomegaly with cystic kidney disease	AR
CREB3L1	616215	Osteogenesis imperfecta, type XVI	AR
CREBBP	600140	Menke-Hennekam syndrome 1	AD
CREBBP	600140	Rubinstein-Taybi syndrome 1	AD
CRELD1	607170	Atrioventricular septal defect, partial, with heterotaxy syndrome	AD
CRELD1	607170	Atrioventricular septal defect, susceptibility to, 2	AD
CRIPT	604594	Short stature with microcephaly and distinctive facies	AR
CRPPA	614631	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	AR
CRPPA	614631	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	AR
CRTAP	605497	Osteogenesis imperfecta, type VII	AR
CSGALNACT1	616615	Skeletal dysplasia, mild, with joint laxity and advanced bone age	AR
CSPP1	611654	Joubert syndrome 21	AR
CTNNA2	114025	Cortical dysplasia, complex, with other brain malformations 9	AR
CTNND1	601045	Blepharocheilodontic syndrome 2	AD
CUL4B	300304	Mental retardation, X-linked, syndromic 15 (Cabezas type)	XLR
CUL7	609577	3-M syndrome 1	AR
CYB5A	613218	Methemoglobinemia and ambiguous genitalia	AR
CYP19A1	107910	Aromatase excess syndrome	AD
CYP19A1	107910	Aromatase deficiency	-
CYP1B1	601771	Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset	AR
CYP1B1	601771	Anterior segment dysgenesis 6, multiple subtypes	AR
CYP26B1	605207	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	-
DAG1	128239	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9	AR
DAG1	128239	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	AR
DCC	120470	Esophageal carcinoma, somatic	-
		Colorectal cancer, somatic	-
		Gaze palsy, familial horizontal, with progressive scoliosis, 2	AR
		Mirror movements 1 and/or agenesis of the corpus callosum	AD
DCHS1	603057	Van Maldergem syndrome 1	AR
DCHS1	603057	Mitral valve prolapse 2	AD
DCX	300121	Lissencephaly, X-linked	XL
DCX	300121	Subcortical laminal heterotopia, X-linked	XL
DDR2	191311	Spondylometaepiphyseal dysplasia, short limb-hand type	AR
DDR2	191311	Warburg-Cinotti syndrome	AD
DDX59	615464	Orofaciodigital syndrome V	AR
DEAF1	602635	Vulto-van Silfout-de Vries syndrome	AD
DEAF1	602635	Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures	AR
DHCR24	606418	Desmosterolosis	AR
DHCR7	602858	Smith-Lemli-Opitz syndrome	AR
DHODH	126064	Miller syndrome	AR
DLL3	602768	Spondylocostal dysostosis 1, autosomal recessive	AR
DLL4	605185	Adams-Oliver syndrome 6	AD
DMP1	600980	Hypophosphatemic rickets, AR	AR
DNAAF1	613190	Ciliary dyskinesia, primary, 13	AR
DNAAF11	614930	Ciliary dyskinesia, primary, 19	AR
DNAAF2	612517	Ciliary dyskinesia, primary, 10	AR
DNAAF3	614566	Ciliary dyskinesia, primary, 2	AR
DNAAF4	608706	Dyslexia, susceptibility to, 1	AD
DNAAF4	608706	Ciliary dyskinesia, primary, 25	AR
DNAAF5	614864	Ciliary dyskinesia, primary, 18	AR
DNAH1	603332	Spermatogenic failure 18	AR
DNAH1	603332	?Ciliary dyskinesia, primary, 37	AR
DNAH11	603339	Ciliary dyskinesia, primary, 7, with or without situs inversus	AR
DNAH5	603335	Ciliary dyskinesia, primary, 3, with or without situs inversus	AR
DNAI1	604366	Ciliary dyskinesia, primary, 1, with or without situs inversus	AR
DNAI2	605483	Ciliary dyskinesia, primary, 9, with or without situs inversus	AR
DNAJB13	610263	Ciliary dyskinesia, primary, 34	AR
DNAL1	610062	Ciliary dyskinesia, primary, 16	AR
DNM2	602378	Lethal congenital contracture syndrome 5	AR
		Charcot-Marie-Tooth disease, axonal type 2M	AD
		Charcot-Marie-Tooth disease, dominant intermediate B	AD
		Centronuclear myopathy 1	AD
DOCK6	614194	Adams-Oliver syndrome 2	AR
DOK7	610285	Fetal akinesia deformation sequence 3	AR
DOK7	610285	Myasthenic syndrome, congenital, 10	AR
DPAGT1	191350	Myasthenic syndrome, congenital, 13, with tubular aggregates	AR
DPAGT1	191350	Congenital disorder of glycosylation, type Ij	AR
DPF2	601671	Coffin-Siris syndrome 7	AD
DRC1	615288	Ciliary dyskinesia, primary, 21	AR
DSE	605942	Ehlers-Danlos syndrome, musculocontractural type 2	AR
DVL3	601368	Robinow syndrome, autosomal dominant 3	AD
DYM	607461	Dyggve-Melchior-Clausen disease	AR
DYM	607461	Smith-McCort dysplasia	AR
DYNC1H1	600112	Spinal muscular atrophy, lower extremity-predominant 1, AD	AD
		Charcot-Marie-Tooth disease, axonal, type 20	AD
		Mental retardation, autosomal dominant 13	AD
DYNC2H1	603297	Short-rib thoracic dysplasia 3 with or without polydactyly	AR, DR
DYNC2I1	615462	Short-rib thoracic dysplasia 8 with or without polydactyly	AR
DYNC2I2	613363	Short-rib thoracic dysplasia 11 with or without polydactyly	AR
DYNC2LI1	617083	Short-rib thoracic dysplasia 15 with polydactyly	AR
DYRK1A	600855	Mental retardation, autosomal dominant 7	AD
EBP	300205	MEND syndrome	XLR
EBP	300205	Chondrodysplasia punctata, X-linked dominant	XLD
ECEL1	605896	Arthrogryposis, distal, type 5D	AR
EDN3	131242	Waardenburg syndrome, type 4B	AD, AR
		Hirschsprung disease, susceptibility to, 4	AD
		Central hypoventilation syndrome, congenital	AD
EDNRB	131244	Waardenburg syndrome, type 4A	AD, AR
		Hirschsprung disease, susceptibility to, 2	AD
		ABCD syndrome	AR
EFEMP2	604633	Cutis laxa, autosomal recessive, type IB	AR
EFNB1	300035	Craniofrontonasal dysplasia	XLD
EFTUD2	603892	Mandibulofacial dysostosis, Guion-Almeida type	AD
EGR2	129010	Dejerine-Sottas disease	AD, AR
		Hypomyelinating neuropathy, congenital, 1	AD, AR
		Charcot-Marie-Tooth disease, type 1D	AD
EIF2AK3	604032	Wolcott-Rallison syndrome	AR
EIF2S3	300161	MEHMO syndrome	XLR
ELN	130160	Cutis laxa, autosomal dominant	AD
ELN	130160	Supravalvar aortic stenosis	AD
ENPP1	173335	Arterial calcification, generalized, of infancy, 1	AR
		Obesity, susceptibility to	AD, AR, MF
		Hypophosphatemic rickets, autosomal recessive, 2	AR
		Cole disease	AD
		Diabetes mellitus, non-insulin-dependent, susceptibility to	AD
EOGT	614789	Adams-Oliver syndrome 4	AR
EPG5	615068	Vici syndrome	AR
ERCC1	126380	Cerebrooculofacioskeletal syndrome 4	AR
ERCC2	126340	?Cerebrooculofacioskeletal syndrome 2	AR
		Xeroderma pigmentosum, group D	AR
		Trichothiodystrophy 1, photosensitive	AR
ERCC5	133530	Xeroderma pigmentosum, group G	AR
		Cerebrooculofacioskeletal syndrome 3	AR
		Xeroderma pigmentosum, group G/Cockayne syndrome	AR
ERCC6	609413	Lung cancer, susceptibility to	AD, SM
		UV-sensitive syndrome 1	AR
		Premature ovarian failure 11	AD
		Macular degeneration, age-related, susceptibility to, 5	-
		Cockayne syndrome, type B	AR
		De Sanctis-Cacchione syndrome	AR
		Cerebrooculofacioskeletal syndrome 1	AR
ERF	611888	Chitayat syndrome	AD
ERF	611888	Craniosynostosis 4	AD
ESCO2	609353	Roberts syndrome	AR
		Juberg-Hayward syndrome	AR
		SC phocomelia syndrome	AR
EVC	604831	Ellis-van Creveld syndrome	AR
EVC	604831	?Weyers acrofacial dysostosis	AD
EVC2	607261	Ellis-van Creveld syndrome	AR
EVC2	607261	Weyers acrofacial dysostosis	AD
EXOSC3	606489	Pontocerebellar hypoplasia, type 1B	AR
EXOSC9	606180	Pontocerebellar hypoplasia, type 1D	AR
EXT1	608177	Chondrosarcoma	SM
EXT1	608177	Exostoses, multiple, type 1	AD
EXT2	608210	Exostoses, multiple, type 2	AD
EXT2	608210	Seizures, scoliosis, and macrocephaly syndrome	AR
EYA1	601653	Anterior segment anomalies with or without cataract	AD
		Branchiootorenal syndrome 1, with or without cataracts	AD
		?Otofaciocervical syndrome	AD
		Branchiootic syndrome 1	AD
FAM20C	611061	Raine syndrome	AR
FAS	134637	Autoimmune lymphoproliferative syndrome, type IA	AD
FAS	134637	Autoimmune lymphoproliferative syndrome	AD
FAT4	612411	Hennekam lymphangiectasia-lymphedema syndrome 2	AR
FAT4	612411	Van Maldergem syndrome 2	AR
FBLN1	135820	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses	AD
FBLN5	604580	Cutis laxa, autosomal recessive, type IA	AR
		Neuropathy, hereditary, with or without age-related macular degeneration	AD
		Charcot-Marie-Tooth disease, demyelinating, type 1H	AD
		Macular degeneration, age-related, 3	AD
		?Cutis laxa, autosomal dominant 2	AD
FBN1	134797	Marfan lipodystrophy syndrome	AD
		Geleophysic dysplasia 2	AD
		Acromicric dysplasia	AD
		Marfan syndrome	AD
		Weill-Marchesani syndrome 2, dominant	AD
		Stiff skin syndrome	AD
		MASS syndrome	AD
		Ectopia lentis, familial	AD
FBN2	612570	Contractural arachnodactyly, congenital	AD
FBN2	612570	Macular degeneration, early-onset	AD
FBXL4	605654	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	AR
FBXW11	605651	Neurodevelopmental, jaw, eye, and digital syndrome	AD
FGD1	-	Aarskog-Scott syndrome	XLR
FGD1	-	Mental retardation, X-linked syndromic 16	XLR
FGF10	602115	Aplasia of lacrimal and salivary glands	AD
FGF10	602115	LADD syndrome	AD
FGF23	605380	Tumoral calcinosis, hyperphosphatemic, familial, 2	AR
FGF23	605380	Hypophosphatemic rickets, autosomal dominant	AD
FGF8	600483	Hypogonadotropic hypogonadism 6 with or without anosmia	AD
FGFR1	136350	Osteoglophonic dysplasia	AD
		Trigonocephaly 1	AD
		Pfeiffer syndrome	AD
		Encephalocraniocutaneous lipomatosis, somatic mosaic	-
		Hypogonadotropic hypogonadism 2 with or without anosmia	AD
		Jackson-Weiss syndrome	AD
		Hartsfield syndrome	AD
FGFR2	176943	Crouzon syndrome	AD
		Saethre-Chotzen syndrome	AD
		Craniofacial-skeletal-dermatologic dysplasia	AD
		Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	AD
		Gastric cancer, somatic	-
		LADD syndrome	AD
		Beare-Stevenson cutis gyrata syndrome	AD
		Scaphocephaly, maxillary retrusion, and mental retardation	-
		Apert syndrome	AD
		Bent bone dysplasia syndrome	AD
		Pfeiffer syndrome	AD
		Jackson-Weiss syndrome	AD
FGFR3	134934	Achondroplasia	AD
		CATSHL syndrome	AD, AR
		Thanatophoric dysplasia, type I	AD
		Bladder cancer, somatic	-
		Hypochondroplasia	AD
		SADDAN	AD
		Colorectal cancer, somatic	-
		Crouzon syndrome with acanthosis nigricans	AD
		Cervical cancer, somatic	-
		Nevus, epidermal, somatic	-
		Thanatophoric dysplasia, type II	AD
		Spermatocytic seminoma, somatic	-
		Muenke syndrome	AD
		LADD syndrome	AD
FHL1	300163	Reducing body myopathy, X-linked 1b, with late childhood or adult onset	XL
		Scapuloperoneal myopathy, X-linked dominant	XLD
		?Uruguay faciocardiomusculoskeletal syndrome	XLR
		Myopathy, X-linked, with postural muscle atrophy	XLR
		Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset	XLD
		Emery-Dreifuss muscular dystrophy 6, X-linked	XLR
FKBP10	607063	Osteogenesis imperfecta, type XI	AR
FKBP10	607063	Bruck syndrome 1	AR
FKBP14	614505	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	AR
FKRP	606596	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5	AR
		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5	AR
		Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	AR
FKTN	607440	Cardiomyopathy, dilated, 1X	AR
		Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4	AR
		Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	AR
		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	AR
FLCN	607273	Birt-Hogg-Dube syndrome	AD
		Pneumothorax, primary spontaneous	AD
		Renal carcinoma, chromophobe, somatic	-
		Colorectal cancer, somatic	-
FLNA	300017	Frontometaphyseal dysplasia 1	XLR
		Heterotopia, periventricular, 1	XLD
		Terminal osseous dysplasia	XLD
		Congenital short bowel syndrome	XLR
		Otopalatodigital syndrome, type II	XLD
		Melnick-Needles syndrome	XLD
		Cardiac valvular dysplasia, X-linked	XL
		Intestinal pseudoobstruction, neuronal	XLR
		?FG syndrome 2	XL
		Otopalatodigital syndrome, type I	XLD
FLNB	603381	Larsen syndrome	AD
		Boomerang dysplasia	AD
		Spondylocarpotarsal synostosis syndrome	AR
		Atelosteogenesis, type III	AD
		Atelosteogenesis, type I	AD
FOXC1	601090	Anterior segment dysgenesis 3, multiple subtypes	AD
FOXC1	601090	Axenfeld-Rieger syndrome, type 3	AD
FOXE1	602617	Bamforth-Lazarus syndrome	AR
FOXE1	602617	Thyroid cancer, nonmedullary, 4	AD
FOXL2	605597	Blepharophimosis, epicanthus inversus, and ptosis, type 1	AD, AR
		Blepharophimosis, epicanthus inversus, and ptosis, type 2	AD, AR
		Premature ovarian failure 3	AD
FRAS1	607830	Fraser syndrome 1	AR
FREM1	608944	Manitoba oculotrichoanal syndrome	AR
		Trigonocephaly 2	AD
		Bifid nose with or without anorectal and renal anomalies	AR
FREM2	608945	Fraser syndrome 2	AR
FREM2	608945	Cryptophthalmos, unilateral or bilateral, isolated	AR
FZD6	603409	Nail disorder, nonsyndromic congenital, 1	AR
GAS8	605178	Ciliary dyskinesia, primary, 33	AR
GATA4	600576	Atrioventricular septal defect 4	AD
		?Testicular anomalies with or without congenital heart disease	AD
		Ventricular septal defect 1	AD
		Tetralogy of Fallot	AD
		Atrial septal defect 2	AD
GBA	606463	Lewy body dementia, susceptibility to	AD
		Gaucher disease, type IIIC	AR
		Parkinson disease, late-onset, susceptibility to	AD, MF
		Gaucher disease, type II	AR
		Gaucher disease, type III	AR
		Gaucher disease, perinatal lethal	AR
		Gaucher disease, type I	AR
GBE1	607839	Glycogen storage disease IV	AR
GBE1	607839	Polyglucosan body disease, adult form	AR
GDF1	602880	Congenital heart defects, multiple types, 6	AD
GDF1	602880	Right atrial isomerism (Ivemark)	AR
GDF3	606522	Klippel-Feil syndrome 3, autosomal dominant	-
		Microphthalmia, isolated 7	AD
		Microphthalmia with coloboma 6	AD
GDF5	601146	Du Pan syndrome	AR
		Brachydactyly, type C	AD
		Osteoarthritis-5	-
		Multiple synostoses syndrome 2	AD
		Chondrodysplasia, Grebe type	AR
		Brachydactyly, type A1, C	AD, AR
		?Acromesomelic dysplasia, Hunter-Thompson type	AR
		Brachydactyly, type A2	AD
		Symphalangism, proximal, 1B	AD
GDF6	601147	Leber congenital amaurosis 17	AR
		Multiple synostoses syndrome 4	AD
		Klippel-Feil syndrome 1, autosomal dominant	AD
		Microphthalmia, isolated 4	-
		Microphthalmia with coloboma 6, digenic	AD
GDNF	600837	Pheochromocytoma, modifier of	AD
		Central hypoventilation syndrome	AD
		Hirschsprung disease, susceptibility to, 3	AD
GFPT1	138292	Myasthenia, congenital, 12, with tubular aggregates	AR
GGCX	137167	Vitamin K-dependent clotting factors, combined deficiency of, 1	AR
GGCX	137167	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	-
GJA1	121014	Oculodentodigital dysplasia, autosomal recessive	AR
		Atrioventricular septal defect 3	AD
		Syndactyly, type III	AD
		Craniometaphyseal dysplasia, autosomal recessive	AR
		Palmoplantar keratoderma with congenital alopecia	AD
		Oculodentodigital dysplasia	AD
		Hypoplastic left heart syndrome 1	AR
		Erythrokeratodermia variabilis et progressiva 3	AD
GLE1	603371	Congenital arthrogryposis with anterior horn cell disease	AR
GLE1	603371	Lethal congenital contracture syndrome 1	AR
GLI2	165230	Holoprosencephaly 9	AD
GLI2	165230	Culler-Jones syndrome	AD
GLI3	165240	Pallister-Hall syndrome	AD
		Polydactyly, preaxial, type IV	AD
		Polydactyly, postaxial, types A1 and B	AD
		Greig cephalopolysyndactyly syndrome	AD
GMPPB	615320	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14	AR
		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14	AR
		Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	AR
GNAS	139320	Pseudohypoparathyroidism Ic	AD
		Osseous heteroplasia, progressive	AD
		Pseudopseudohypoparathyroidism	AD
		Pseudohypoparathyroidism Ia	AD
		Pseudohypoparathyroidism Ib	AD
		Pituitary adenoma 3, multiple types, somatic	-
		ACTH-independent macronodular adrenal hyperplasia	SM
		McCune-Albright syndrome, somatic, mosaic	-
GNPAT	602744	Rhizomelic chondrodysplasia punctata, type 2	AR
GORAB	607983	Geroderma osteodysplasticum	AR
GPC3	300037	Simpson-Golabi-Behmel syndrome, type 1	XLR
GPC3	300037	Wilms tumor, somatic	-
GPC6	604404	Omodysplasia 1	AR
GRHL3	608317	Van der Woude syndrome 2	AD
GRIP1	604597	Fraser syndrome 3	AR
HBA1	141800	Methemoglobinemia, alpha type	AD
		Heinz body anemias, alpha-	AD
		Erythrocytosis 7	AD
		Thalassemias, alpha-	-
		Hemoglobin H disease, nondeletional	-
HCCS	300056	Linear skin defects with multiple congenital anomalies 1	XLD
HDAC8	300269	Cornelia de Lange syndrome 5	XLD
HES7	-	Spondylocostal dysostosis 4, autosomal recessive	AR
HESX1	601802	Septooptic dysplasia	AD, AR
		Pituitary hormone deficiency, combined, 5	AD, AR
		Growth hormone deficiency with pituitary anomalies	AD, AR
HEXA	606869	Tay-Sachs disease	AR
		[Hex A pseudodeficiency]	AR
		GM2-gangliosidosis, several forms	AR
HMX1	142992	Oculoauricular syndrome	AR
HOXA13	142959	?Guttmacher syndrome	AD
HOXA13	142959	Hand-foot-uterus syndrome	AD
HOXD13	142989	Syndactyly, type V	AD
		?Brachydactyly-syndactyly syndrome	-
		Brachydactyly, type D	AD
		Synpolydactyly 1	AD
		Brachydactyly, type E	AD
HRAS	190020	Thyroid carcinoma, follicular, somatic	-
		Spitz nevus or nevus spilus, somatic	-
		Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	-
		Bladder cancer, somatic	-
		Costello syndrome	AD
		Nevus sebaceous or woolly hair nevus, somatic	-
		Congenital myopathy with excess of muscle spindles	AD
HSPG2	142461	Schwartz-Jampel syndrome, type 1	AR
HSPG2	142461	Dyssegmental dysplasia, Silverman-Handmaker type	AR
HUWE1	300697	Mental retardation, X-linked syndromic, Turner type	XL
HYDIN	610812	Ciliary dyskinesia, primary, 5	AR
HYLS1	610693	Hydrolethalus syndrome	AR
IER3IP1	609382	Microcephaly, epilepsy, and diabetes syndrome	AR
IFITM5	614757	Osteogenesis imperfecta, type V	AD
IFT122	606045	Cranioectodermal dysplasia 1	AR
IFT140	614620	Retinitis pigmentosa 80	AR
IFT140	614620	Short-rib thoracic dysplasia 9 with or without polydactyly	AR
IFT172	607386	Retinitis pigmentosa 71	AR
		Bardet-Biedl syndrome 20	AR
		Short-rib thoracic dysplasia 10 with or without polydactyly	AR
IFT27	615870	?Bardet-Biedl syndrome 19	AR
IFT43	614068	?Cranioectodermal dysplasia 3	AR
		Short-rib thoracic dysplasia 18 with polydactyly	AR
		?Retinitis pigmentosa 81	AR
IFT80	611177	Short-rib thoracic dysplasia 2 with or without polydactyly	AR
IFT81	605489	Short-rib thoracic dysplasia 19 with or without polydactyly	AR
IGF1R	147370	Insulin-like growth factor I, resistance to	AD, AR
IHH	600726	Brachydactyly, type A1	AD
IHH	600726	Acrocapitofemoral dysplasia	AR
IL11RA	600939	Craniosynostosis and dental anomalies	AR
INPP5E	613037	Mental retardation, truncal obesity, retinal dystrophy, and micropenis	AR
INPP5E	613037	Joubert syndrome 1	AR
INPPL1	600829	Opsismodysplasia	AR
INVS	243305	Nephronophthisis 2, infantile	AR
IPO8	605600	VISS syndrome	AR
IRF6	607199	Orofacial cleft 6	AD
		van der Woude syndrome	AD
		Popliteal pterygium syndrome 1	AD
ITGB4	147557	Epidermolysis bullosa, junctional, non-Herlitz type	AR
		Epidermolysis bullosa, junctional 5A, intermediate	-
		Epidermolysis bullosa of hands and feet	AD
		Epidermolysis bullosa, junctional, with pyloric atresia	AR
JAG1	601920	Alagille syndrome 1	AD
		Charcot-Marie-Tooth disease, axonal, type 2HH	AD
		?Deafness, congenital heart defects, and posterior embryotoxon	AD
		Tetralogy of Fallot	AD
KAT6B	605880	SBBYSS syndrome	AD
KAT6B	605880	Genitopatellar syndrome	AD
KATNB1	602703	Lissencephaly 6, with microcephaly	AR
KBTBD13	613727	Nemaline myopathy 6, autosomal dominant	AD
KDM5C	314690	Mental retardation, X-linked, syndromic, Claes-Jensen type	XLR
KDM6A	300128	Kabuki syndrome 2	XLD
KIAA0586	610178	Joubert syndrome 23	AR
KIAA0586	610178	Short-rib thoracic dysplasia 14 with polydactyly	AR
KIF11	148760	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	AD
KIF14	611279	?Meckel syndrome 12	AR
KIF14	611279	Microcephaly 20, primary, autosomal recessive	AR
KIF22	603213	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	AD
KIF2A	602591	Cortical dysplasia, complex, with other brain malformations 3	AD
KIF5C	604593	Cortical dysplasia, complex, with other brain malformations 2	AD
KIF7	611254	Joubert syndrome 12	AR
		?Hydrolethalus syndrome 2	AR
		?Al-Gazali-Bakalinova syndrome	AR
		Acrocallosal syndrome	AR
KIFBP	609367	Goldberg-Shprintzen megacolon syndrome	AR
KIT	164920	Gastrointestinal stromal tumor, familial	AD, IC
		Germ cell tumors, somatic	-
		Piebaldism	AD
		Leukemia, acute myeloid, somatic	-
		Mastocytosis, systemic, somatic	-
		Mastocytosis, cutaneous	AD
KLHL40	615340	Nemaline myopathy 8, autosomal recessive	AR
KLHL41	607701	Nemaline myopathy 9	AR
KMT2A	159555	Wiedemann-Steiner syndrome	AD
KMT2D	602113	Kabuki syndrome 1	AD
KNL1	609173	Microcephaly 4, primary, autosomal recessive	AR
KRAS	190070	Arteriovenous malformation of the brain, somatic	-
		Gastric cancer, somatic	-
		Oculoectodermal syndrome, somatic	-
		RAS-associated autoimmune leukoproliferative disorder	AD
		Gastric cancer, somatic	-
		Pancreatic carcinoma, somatic	-
		Lung cancer, somatic	-
		Cardiofaciocutaneous syndrome 2	AD
		Bladder cancer, somatic	-
		Leukemia, acute myeloid, somatic	-
		Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	-
		Breast cancer, somatic	-
		Noonan syndrome 3	AD
KRIT1	604214	Cavernous malformations of CNS and retina	AD
		Cerebral cavernous malformations-1	AD
		Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations	AD
L1CAM	308840	Hydrocephalus with congenital idiopathic intestinal pseudoobstruction	XLR
		CRASH syndrome	XLR
		Corpus callosum, partial agenesis of	XLR
		Hydrocephalus with Hirschsprung disease	XLR
		MASA syndrome	XLR
		Hydrocephalus due to aqueductal stenosis	XLR
LAMA2	156225	Muscular dystrophy, congenital, merosin deficient or partially deficient	AR
LAMA2	156225	Muscular dystrophy, limb-girdle, autosomal recessive 23	AR
LAMA3	600805	Laryngoonychocutaneous syndrome	AR
		Epidermolysis bullosa, junctional, Herlitz type	AR
		Epidermolysis bullosa, junctional 2B, severe	-
		Epidermolysis bullosa, generalized atrophic benign	AR
		Epidermolysis bullosa, junctional 2A, intermediate	-
LAMB1	150240	Lissencephaly 5	AR
LAMB3	150310	Epidermolysis bullosa, junctional, non-Herlitz type	AR
		Amelogenesis imperfecta, type IA	AD
		Epidermolysis bullosa, junctional, Herlitz type	AR
LAMC2	150292	Epidermolysis bullosa, junctional, non-Herlitz type	AR
		Epidermolysis bullosa, junctional, Herlitz type	AR
		Epidermolysis bullosa, junctional 3B, severe	-
		Epidermolysis bullosa, junctional 3A, intermediate	-
LARGE1	603590	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6	AR
LARGE1	603590	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6	AR
LBR	600024	?Reynolds syndrome	AD
		Greenberg skeletal dysplasia	AR
		Pelger-Huet anomaly	AD
		Pelger-Huet anomaly with mild skeletal anomalies	-
LFNG	602576	Spondylocostal dysostosis 3, autosomal recessive	AR
LIFR	151443	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome	AR
LMNA	150330	Restrictive dermopathy 2	-
		Malouf syndrome	AD
		Emery-Dreifuss muscular dystrophy 3, autosomal recessive	AR
		Emery-Dreifuss muscular dystrophy 2, autosomal dominant	AD
		Hutchinson-Gilford progeria	AD
		Muscular dystrophy, congenital	AD
		Restrictive dermopathy, lethal	AR
		Lipodystrophy, familial partial, type 2	AD
		Charcot-Marie-Tooth disease, type 2B1	AR
		Mandibuloacral dysplasia	AR
		Cardiomyopathy, dilated, 1A	AD
		Heart-hand syndrome, Slovenian type	AD
LMOD3	616112	Nemaline myopathy 10	AR
LMX1B	602575	Nail-patella syndrome	AD
LMX1B	602575	Focal segmental glomerulosclerosis 10	AD
LOX	153455	Aortic aneurysm, familial thoracic 10	AD
LRP2	600073	Donnai-Barrow syndrome	AR
LRP4	604270	?Myasthenic syndrome, congenital, 17	AR
		Cenani-Lenz syndactyly syndrome	AR
		Sclerosteosis 2	AD, AR
LRP5	603506	van Buchem disease, type 2	-
		Osteosclerosis	AD
		Osteoporosis	AD
		[Bone mineral density variability 1]	AD
		Osteopetrosis, autosomal dominant 1	AD
		Polycystic liver disease 4 with or without kidney cysts	AD
		Osteoporosis-pseudoglioma syndrome	AR
		Hyperostosis, endosteal	AD
		Exudative vitreoretinopathy 4	AD, AR
LTBP3	602090	Geleophysic dysplasia 3	AD
LTBP3	602090	Dental anomalies and short stature	AR
LZTFL1	606568	Bardet-Biedl syndrome 17	AR
LZTR1	600574	Noonan syndrome 2	AR
		Schwannomatosis-2, susceptibility to	AD
		Noonan syndrome 10	AD
MAB21L2	604357	Microphthalmia/coloboma and skeletal dysplasia syndrome	AD, AR
MACF1	608271	Lissencephaly 9 with complex brainstem malformation	AD
MAFB	608968	Duane retraction syndrome 3	AD
MAFB	608968	Multicentric carpotarsal osteolysis syndrome	AD
MAGEL2	605283	Schaaf-Yang syndrome	AD
MAP2K1	176872	Cardiofaciocutaneous syndrome 3	AD
MAP2K1	176872	Melorheostosis, isolated, somatic mosaic	-
MAP2K2	601263	Cardiofaciocutaneous syndrome 4	AD
MASP1	600521	3MC syndrome 1	AR
MATN3	602109	?Spondyloepimetaphyseal dysplasia, Borochowitz Cormier-Daire type	AR
		Epiphyseal dysplasia, multiple, 5	AD
		Osteoarthritis susceptibility 2	AD
MBTPS2	300294	Osteogenesis imperfecta, type XIX	XLR
		?Olmsted syndrome, X-linked	XLR
		Keratosis follicularis spinulosa decalvans, X-linked	XLR
		IFAP syndrome with or without BRESHECK syndrome	XLR
MCIDAS	614086	Ciliary dyskinesia, primary, 42	AR
MCPH1	607117	Microcephaly 1, primary, autosomal recessive	AR
MED12	300188	Opitz-Kaveggia syndrome	XLR
		Lujan-Fryns syndrome	XLR
		Ohdo syndrome, X-linked	XLR
		Hardikar syndrome	XLD
MED13L	608771	Transposition of the great arteries, dextro-looped 1	AD
MED13L	608771	Mental retardation and distinctive facial features with or without cardiac defects	AD
MED17	603810	Microcephaly, postnatal progressive, with seizures and brain atrophy	AR
MEGF8	604267	Carpenter syndrome 2	AR
MEIS2	601740	Cleft palate, cardiac defects, and mental retardation	AD
MEOX1	600147	Klippel-Feil syndrome 2	AR
MESP2	605195	Spondylocostal dysostosis 2, autosomal recessive	AR
MFAP5	601103	Aortic aneurysm, familial thoracic 9	AD
MFRP	606227	Microphthalmia, isolated 5	AR
MFRP	606227	Nanophthalmos 2	-
MFSD2A	614397	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities	AR
MGP	154870	Keutel syndrome	AR
MID1	-	Opitz GBBB syndrome, type I	XLR
MITF	156845	Melanoma, cutaneous malignant, susceptibility to, 8	-
		Waardenburg syndrome, type 2A	AD
		Waardenburg syndrome/ocular albinism, digenic	-
		Tietz albinism-deafness syndrome	AD
		COMMAD syndrome	AR
MKKS	604896	McKusick-Kaufman syndrome	AR
MKKS	604896	Bardet-Biedl syndrome 6	AR
MKS1	609883	Bardet-Biedl syndrome 13	AR
		Joubert syndrome 28	AR
		Meckel syndrome 1	AR
MMP13	600108	Metaphyseal anadysplasia 1	AD
		Metaphyseal dysplasia, Spahr type	AR
		?Spondyloepimetaphyseal dysplasia, Missouri type	AD
MMP21	608416	Heterotaxy, visceral, 7, autosomal	AR
MMP9	120361	Metaphyseal anadysplasia 2	-
MN1	156100	CEBALID syndrome	AD
MN1	156100	Meningioma	AD
MRAS	608435	Noonan syndrome 11	AD
MSMO1	607545	Microcephaly, congenital cataract, and psoriasiform dermatitis	AR
MSX1	142983	Orofacial cleft 5	AD
		Tooth agenesis, selective, 1, with or without orofacial cleft	AD
		Ectodermal dysplasia 3, Witkop type	AD
MSX2	123101	Parietal foramina with cleidocranial dysplasia	AD
		Parietal foramina 1	AD
		Craniosynostosis 2	AD
MTM1	300415	Myotubular myopathy, X-linked	XLR
MUSK	601296	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	AR
MUSK	601296	Fetal akinesia deformation sequence 1	AR
MYBPC1	160794	Arthrogryposis, distal, type 1B	AD
		Lethal congenital contracture syndrome 4	AR
		Myopathy, congenital, with tremor	AD
MYCN	164840	Feingold syndrome 1	AD
MYH11	160745	Aortic aneurysm, familial thoracic 4	AD
		Visceral myopathy 2	AD
		Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	AR
MYH2	160740	Proximal myopathy and ophthalmoplegia	AD, AR
MYH3	160720	Arthrogryposis, distal, type 2B3 (Sheldon-Hall)	AD
		Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B	AR
		Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	AD
		Arthrogryposis, distal, type 2A (Freeman-Sheldon)	AD
MYH8	160741	Trismus-pseudocamptodactyly syndrome	AD
MYH8	160741	Carney complex variant	-
MYLK	600922	Aortic aneurysm, familial thoracic 7	AD
MYLK	600922	Megacystis-microcolon-intestinal hypoperistalsis syndrome	AR
MYO18B	607295	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism	AR
MYO7A	276903	Deafness, autosomal dominant 11	AD
		Usher syndrome, type 1B	AR
		Deafness, autosomal recessive 2	AR
MYO9A	604875	Myasthenic syndrome, congenital, 24, presynaptic	AR
NAA10	300013	Ogden syndrome	XLD, XLR
NAA10	300013	Microphthalmia, syndromic 1	XL
NALCN	611549	Congenital contractures of the limbs and face, hypotonia, and developmental delay	AD
NALCN	611549	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	AR
NBAS	608025	Short stature, optic nerve atrophy, and Pelger-Huet anomaly	AR
NBAS	608025	Infantile liver failure syndrome 2	AR
NCAPD3	609276	Microcephaly 22, primary, autosomal recessive	AR
NDE1	609449	Lissencephaly 4 (with microcephaly)	AR
NDE1	609449	?Microhydranencephaly	AR
NDP	300658	Norrie disease	XLR
NDP	300658	Exudative vitreoretinopathy 2, X-linked	XLD, XLR
NEB	161650	Nemaline myopathy 2, autosomal recessive	AR
NEB	161650	Arthrogryposis multiplex congenita 6	AR
NECTIN1	600644	Orofacial cleft 7	AR
NECTIN1	600644	Cleft lip/palate-ectodermal dysplasia syndrome	AR
NEK1	604588	Short-rib thoracic dysplasia 6 with or without polydactyly	AR, DR
NEK1	604588	Amyotrophic lateral sclerosis, susceptibility to, 24	AD
NEK8	609799	Renal-hepatic-pancreatic dysplasia 2	AR
NEK8	609799	?Nephronophthisis 9	-
NEK9	609798	?Arthrogryposis, Perthes disease, and upward gaze palsy	AR
		Nevus comedonicus, somatic	-
		Lethal congenital contracture syndrome 10	AR
NEPRO	617089	Anauxetic dysplasia 3	AR
NF1	613113	Watson syndrome	AD
		Leukemia, juvenile myelomonocytic	AD, SM
		Neurofibromatosis, type 1	AD
		Neurofibromatosis, familial spinal	AD
		Neurofibromatosis-Noonan syndrome	AD
NF2	607379	Neurofibromatosis, type 2	AD
		Schwannomatosis, somatic	-
		Meningioma, NF2-related, somatic	-
NHEJ1	611290	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation	-
NIPBL	608667	Cornelia de Lange syndrome 1	AD
NKX2-5	600584	Hypoplastic left heart syndrome 2	AD
		Hypothyroidism, congenital nongoitrous, 5	AD
		Atrial septal defect 7, with or without AV conduction defects	AD
		Conotruncal heart malformations, variable	-
		Ventricular septal defect 3	AD
		Tetralogy of Fallot	AD
NKX3-2	602183	Spondylo-megaepiphyseal-metaphyseal dysplasia	AR
NME8	607421	Ciliary dyskinesia, primary, 6	AR
NODAL	601265	Heterotaxy, visceral, 5	AD
NOG	602991	Stapes ankylosis with broad thumbs and toes	AD
		Brachydactyly, type B2	AD
		Tarsal-carpal coalition syndrome	AD
		Multiple synostoses syndrome 1	AD
		Symphalangism, proximal, 1A	AD
NOTCH1	190198	Adams-Oliver syndrome 5	AD
NOTCH1	190198	Aortic valve disease 1	AD
NOTCH2	600275	Alagille syndrome 2	AD
NOTCH2	600275	Hajdu-Cheney syndrome	AD
NPHP1	607100	Joubert syndrome 4	AR
		Nephronophthisis 1, juvenile	AR
		Senior-Loken syndrome-1	AR
NPHP3	608002	Nephronophthisis 3	AR
		Meckel syndrome 7	AR
		Renal-hepatic-pancreatic dysplasia 1	AR
NPR2	108961	Acromesomelic dysplasia, Maroteaux type	AR
		Short stature with nonspecific skeletal abnormalities	AD
		Epiphyseal chondrodysplasia, Miura type	AD
NR2F2	107773	46, XX sex reversal 5	AD
NR2F2	107773	Congenital heart defects, multiple types, 4	AD
NRAS	164790	Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	-
		Colorectal cancer, somatic	-
		Neurocutaneous melanosis, somatic	-
		?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	-
		Noonan syndrome 6	AD
		Melanocytic nevus syndrome, congenital, somatic	-
		Thyroid carcinoma, follicular, somatic	-
		Epidermal nevus, somatic	-
NRG1	142445	?Schizophrenia, susceptibility to	-
NSD1	606681	Sotos syndrome 1	AD
NSDHL	300275	CK syndrome	XLR
NSDHL	300275	CHILD syndrome	XLD
NSUN2	610916	Mental retardation, autosomal recessive 5	AR
NT5E	129190	Calcification of joints and arteries	AR
OBSL1	610991	3-M syndrome 2	AR
OCRL	-	Lowe syndrome	XLR
OCRL	-	Dent disease 2	XLR
ODAD1	615038	Ciliary dyskinesia, primary, 20	AR
ODAD2	615408	Ciliary dyskinesia, primary, 23	AR
ODAD3	615956	Ciliary dyskinesia, primary, 30	AR
ODAD4	617095	Ciliary dyskinesia, primary, 35	AR
OFD1	300170	Joubert syndrome 10	XLR
		Simpson-Golabi-Behmel syndrome, type 2	XLR
		?Retinitis pigmentosa 23	XLR
		Orofaciodigital syndrome I	XLD
OPHN1	300127	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	XLR
ORC1	601902	Meier-Gorlin syndrome 1	AR
OTX2	600037	Retinal dystrophy, early-onset, with or without pituitary dysfunction	AD
		Microphthalmia, syndromic 5	AD
		Pituitary hormone deficiency, combined, 6	AD
P3H1	610339	Osteogenesis imperfecta, type VIII	AR
P4HB	176790	Cole-Carpenter syndrome 1	AD
PAFAH1B1	601545	Subcortical laminar heterotopia	AD
PAFAH1B1	601545	Lissencephaly 1	AD
PAPSS2	603005	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	AR
PAX2	167409	Glomerulosclerosis, focal segmental, 7	AD
PAX2	167409	Papillorenal syndrome	AD
PAX3	606597	Waardenburg syndrome, type 3	AD, AR
		Rhabdomyosarcoma 2, alveolar	SM
		Craniofacial-deafness-hand syndrome	AD
		Waardenburg syndrome, type 1	AD
PAX6	607108	?Coloboma, ocular	AD
		Aniridia	AD
		?Morning glory disc anomaly	AD
		Keratitis	AD
		Optic nerve hypoplasia	AD
		?Coloboma of optic nerve	AD
		Anterior segment dysgenesis 5, multiple subtypes	AD
		Cataract with late-onset corneal dystrophy	AD
		Foveal hypoplasia 1	AD
PAX7	167410	Myopathy, congenital, progressive, with scoliosis	AR
PAX7	167410	Rhabdomyosarcoma 2, alveolar	SM
PAX9	167416	Tooth agenesis, selective, 3	AD
PCNT	605925	Microcephalic osteodysplastic primordial dwarfism, type II	AR
PDCD10	609118	Cerebral cavernous malformations 3	AD
PDE4D	600129	Acrodysostosis 2, with or without hormone resistance	AD
PDE6D	602676	Joubert syndrome 22	AR
PEX7	601757	Peroxisome biogenesis disorder 9B	AR
PEX7	601757	Rhizomelic chondrodysplasia punctata, type 1	AR
PGM1	171900	Congenital disorder of glycosylation, type It	AR
PHEX	-	Hypophosphatemic rickets, X-linked dominant	XLD
PHF6	300414	Borjeson-Forssman-Lehmann syndrome	XLR
PHF8	300560	Mental retardation syndrome, X-linked, Siderius type	XLR
PHYH	602026	Refsum disease	AR
PIBF1	607532	Joubert syndrome 33	AR
PIEZO2	613629	Arthrogryposis, distal, type 3	AD
		?Marden-Walker syndrome	AD
		Arthrogryposis, distal, type 5	AD
		Arthrogryposis, distal, with impaired proprioception and touch	AR
PIGA	311770	Paroxysmal nocturnal hemoglobinuria, somatic	-
		Multiple congenital anomalies-hypotonia-seizures syndrome 2	XLR
		Neurodevelopmental disorder with epilepsy and hemochromatosis	-
PIGV	610274	Hyperphosphatasia with mental retardation syndrome 1	AR
PIP5K1C	606102	Lethal congenital contractural syndrome 3	AR
PITX2	601542	Anterior segment dysgenesis 4	AD
		Ring dermoid of cornea	AD
		Axenfeld-Rieger syndrome, type 1	AD
PKD1L1	609721	Heterotaxy, visceral, 8, autosomal	AR
PKD2	173910	Polycystic kidney disease 2	AD
PKHD1	606702	Polycystic kidney disease 4, with or without hepatic disease	AR
PLK4	605031	Microcephaly and chorioretinopathy, autosomal recessive, 2	AR
PLOD1	153454	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	AR
PLOD2	601865	Bruck syndrome 2	AR
PLP1	300401	Pelizaeus-Merzbacher disease	XLR
PLP1	300401	Spastic paraplegia 2, X-linked	XLR
PMM2	601785	Congenital disorder of glycosylation, type Ia	AR
PNKP	605610	Ataxia-oculomotor apraxia 4	AR
		Microcephaly, seizures, and developmental delay	AR
		?Charcot-Marie-Tooth disease, type 2B2	AR
PNPLA6	603197	Spastic paraplegia 39, autosomal recessive	AR
		Boucher-Neuhauser syndrome	AR
		Oliver-McFarlane syndrome	AR
		?Laurence-Moon syndrome	AR
POLA1	312040	Van Esch-O'Driscoll syndrome	XLR
POLA1	312040	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	XLR
POLR1C	610060	Leukodystrophy, hypomyelinating, 11	AR
POLR1C	610060	Treacher Collins syndrome 3	AR
POLR1D	613715	Treacher Collins syndrome 2	AD, AR
POMC	176830	Obesity, adrenal insufficiency, and red hair due to POMC deficiency	AR
POMC	176830	Obesity, early-onset, susceptibility to	AD, AR, MF
POMGNT1	606822	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	AR
		Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	AR
		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	AR
		Retinitis pigmentosa 76	AR
POMGNT2	614828	Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8	AR
POMGNT2	614828	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8	AR
POMK	615247	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12	AR
POMK	615247	?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	AR
POMT1	607423	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	AR
		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	AR
		Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1	AR
POMT2	607439	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2	AR
		Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	AR
		Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	AR
POR	124015	Disordered steroidogenesis due to cytochrome P450 oxidoreductase	-
POR	124015	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	AR
PORCN	300651	Focal dermal hypoplasia	XLD
PPARG	-	Carotid intimal medial thickness 1	-
		Obesity, severe	AD, AR, MF
		Lipodystrophy, familial partial, type 3	AD
		Diabetes, type 2	AD
		Insulin resistance, severe, digenic	AD
PPIB	123841	Osteogenesis imperfecta, type IX	AR
PPP1CB	600590	Noonan syndrome-like disorder with loose anagen hair 2	AD
PQBP1	-	Renpenning syndrome	XLR
PRDM5	614161	Brittle cornea syndrome 2	AR
PREPL	609557	Myasthenic syndrome, congenital, 22	AR
PRKAR1A	188830	Myxoma, intracardiac	AD
		Pigmented nodular adrenocortical disease, primary, 1	AD
		Carney complex, type 1	AD
		Acrodysostosis 1, with or without hormone resistance	AD
PRKG1	176894	Aortic aneurysm, familial thoracic 8	AD
PRPH2	179605	Retinitis pigmentosa 7 and digenic form	AD, AR, DD
		Retinitis punctata albescens	AD, AR
		Choroidal dystrophy, central areolar 2	AD
		Macular dystrophy, patterned, 1	AD
		Macular dystrophy, vitelliform, 3	AD
		Leber congenital amaurosis 18	AD, AR, DD
PRSS56	613858	Microphthalmia, isolated 6	AR
PTCH1	601309	Basal cell carcinoma, somatic	-
		Holoprosencephaly 7	AD
		Basal cell nevus syndrome	AD
PTH1R	168468	Chondrodysplasia, Blomstrand type	AR
		Failure of tooth eruption, primary	AD
		Eiken syndrome	AR
		Metaphyseal chondrodysplasia, Murk Jansen type	AD
PTHLH	168470	Brachydactyly, type E2	AD
PTPN11	176876	Leukemia, juvenile myelomonocytic, somatic	-
		LEOPARD syndrome 1	AD
		Metachondromatosis	AD
		Noonan syndrome 1	AD
PXDN	605158	Anterior segment dysgenesis 7, with sclerocornea	AR
PYCR1	179035	Cutis laxa, autosomal recessive, type IIB	AR
PYCR1	179035	Cutis laxa, autosomal recessive, type IIIB	AR
PYCR2	616406	Leukodystrophy, hypomyelinating, 10	AR
QARS1	603727	Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy	AR
RAB18	602207	Warburg micro syndrome 3	AR
RAB23	606144	Carpenter syndrome	AR
RAB3GAP1	602536	Martsolf syndrome 2	AR
RAB3GAP1	602536	Warburg micro syndrome 1	AR
RAB3GAP2	609275	Warburg micro syndrome 2	AR
RAB3GAP2	609275	Martsolf syndrome	AR
RAD21	606462	Cornelia de Lange syndrome 4	AD
RAD21	606462	?Mungan syndrome	AR
RAF1	164760	Noonan syndrome 5	AD
		LEOPARD syndrome 2	-
		Cardiomyopathy, dilated, 1NN	AD
RAPSN	601592	Fetal akinesia deformation sequence 2	AR
RAPSN	601592	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	AR
RARB	180220	Microphthalmia, syndromic 12	AD, AR
RARS2	611524	Pontocerebellar hypoplasia, type 6	AR
RASA1	139150	Basal cell carcinoma, somatic	-
RASA1	139150	Capillary malformation-arteriovenous malformation 1	AD
RAX	601881	Microphthalmia, isolated 3	AR
RBBP8	604124	Seckel syndrome 2	AR
RBBP8	604124	Jawad syndrome	AR
RBP4	180250	Microphthalmia, isolated, with coloboma 10	AD
RBP4	180250	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	AR
RBPJ	147183	Adams-Oliver syndrome 3	AD
RELN	600514	Lissencephaly 2 (Norman-Roberts type)	AR
RELN	600514	Epilepsy, familial temporal lobe, 7	AD
RET	164761	Hirschsprung disease, susceptibility to, 1	AD
		Multiple endocrine neoplasia IIA	AD
		Medullary thyroid carcinoma	AD
		Pheochromocytoma	AD
		Multiple endocrine neoplasia IIB	AD
		Hirschsprung disease, protection against	AD
		Central hypoventilation syndrome, congenital	AD
RHO	180380	Retinitis punctata albescens	AD, AR
		Retinitis pigmentosa 4, autosomal dominant or recessive	AD, AR
		Night blindness, congenital stationary, autosomal dominant 1	-
RIN2	610222	Macrocephaly, alopecia, cutis laxa, and scoliosis	AR
RIPK4	605706	Popliteal pterygium syndrome, Bartsocas-Papas type	AR
RIPK4	605706	CHAND syndrome	AR
RIPPLY2	609891	?Spondylocostal dysostosis 6	AR
RIT1	609591	Noonan syndrome 8	AD
ROBO3	608630	Gaze palsy, familial horizontal, with progressive scoliosis, 1	AR
ROR2	602337	Brachydactyly, type B1	AD
ROR2	602337	Robinow syndrome, autosomal recessive	AR
RPGRIP1L	610937	Joubert syndrome 7	AR
		?COACH syndrome 3	AR
		Meckel syndrome 5	AR
RPL10	312173	Autism, susceptibility to, X-linked 5	-
RPL10	312173	Mental retardation, X-linked, syndromic, 35	XLR
RPS6KA3	300075	Coffin-Lowry syndrome	XLD
RPS6KA3	300075	Mental retardation, X-linked 19	XLD
RSPH1	609314	Ciliary dyskinesia, primary, 24	AR
RSPH3	615876	Ciliary dyskinesia, primary, 32	AR
RSPH4A	612647	Ciliary dyskinesia, primary, 11	-
RSPH9	612648	Ciliary dyskinesia, primary, 12	-
RTTN	610436	Microcephaly, short stature, and polymicrogyria with seizures	AR
RUNX2	600211	Cleidocranial dysplasia, forme fruste, with brachydactyly	AD
		Cleidocranial dysplasia	AD
		Cleidocranial dysplasia, forme fruste, dental anomalies only	AD
		Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	AD
RXYLT1	605862	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10	AR
RYR1	180901	Malignant hyperthermia susceptibility 1	AD
		King-Denborough syndrome	AD
		King-Denborough syndrome	AD
		Central core disease	AD, AR
		Neuromuscular disease, congenital, with uniform type 1 fiber	AD, AR
		Minicore myopathy with external ophthalmoplegia	AR
SALL1	602218	Townes-Brocks branchiootorenal-like syndrome	AD
SALL1	602218	Townes-Brocks syndrome 1	AD
SALL4	607343	IVIC syndrome	AD
SALL4	607343	Duane-radial ray syndrome	AD
SASS6	609321	?Microcephaly 14, primary, autosomal recessive	AR
SATB2	608148	Glass syndrome	AD
SBDS	607444	Aplastic anemia, susceptibility to	-
SBDS	607444	Shwachman-Diamond syndrome	AR
SCN4A	603967	Paramyotonia congenita	AD
		Myotonia congenita, atypical, acetazolamide-responsive	AD
		Myasthenic syndrome, congenital, 16	AR
		Hyperkalemic periodic paralysis, type 2	AD
		Hypokalemic periodic paralysis, type 2	AD
SDCCAG8	613524	Bardet-Biedl syndrome 16	AR
SDCCAG8	613524	Senior-Loken syndrome 7	AR
SEC24D	607186	Cole-Carpenter syndrome 2	AR
SELENON	606210	Muscular dystrophy, rigid spine, 1	AR
SELENON	606210	Myopathy, congenital, with fiber-type disproportion	AD, AR
SEMA3E	608166	?CHARGE syndrome	AD
SEPSECS	613009	Pontocerebellar hypoplasia type 2D	AR
SERPINF1	172860	Osteogenesis imperfecta, type VI	AR
SERPINH1	600943	Preterm premature rupture of the membranes, susceptibility to	-
SERPINH1	600943	Osteogenesis imperfecta, type X	AR
SF3B4	605593	Acrofacial dysostosis 1, Nager type	AD
SH3PXD2B	613293	Frank-ter Haar syndrome	AR
SHH	600725	Schizencephaly	-
		Microphthalmia with coloboma 5	AD
		Single median maxillary central incisor	AD
		Holoprosencephaly 3	AD
SHOC2	602775	Noonan syndrome-like with loose anagen hair 1	AD
SHROOM4	300579	Stocco dos Santos X-linked mental retardation syndrome	XL
SIX3	603714	Holoprosencephaly 2	AD
SIX3	603714	Schizencephaly	-
SIX6	606326	Optic disc anomalies with retinal and/or macular dystrophy	AR
SKI	164780	Shprintzen-Goldberg syndrome	AD
SLC18A3	600336	Myasthenic syndrome, congenital, 21, presynaptic	AR
SLC25A19	606521	Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)	AR
SLC25A19	606521	Microcephaly, Amish type	AR
SLC26A2	606718	Diastrophic dysplasia, broad bone-platyspondylic variant	AR
		Achondrogenesis Ib	AR
		Epiphyseal dysplasia, multiple, 4	AR
		De la Chapelle dysplasia	AR
		Diastrophic dysplasia	AR
		Atelosteogenesis, type II	AR
SLC2A10	606145	Arterial tortuosity syndrome	AR
SLC34A3	609826	Hypophosphatemic rickets with hypercalciuria	AR
SLC35D1	610804	Schneckenbecken dysplasia	AR
SLC38A8	615585	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis	AR
SLC39A13	608735	Ehlers-Danlos syndrome, spondylodysplastic type, 3	AR
SLC5A7	608761	Neuronopathy, distal hereditary motor, type VIIA	AD
SLC5A7	608761	Myasthenic syndrome, congenital, 20, presynaptic	AR
SLC9A6	300231	Mental retardation, X-linked syndromic, Christianson type	XL
SMAD2	601366	Loeys-Dietz syndrome 6	AD
SMAD2	601366	Congenital heart defects, multiple types, 8, with or without heterotaxy	AD
SMAD3	603109	Loeys-Dietz syndrome 3	AD
SMAD4	600993	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	AD
		Pancreatic cancer, somatic	-
		Myhre syndrome	AD
		Polyposis, juvenile intestinal	AD
SMAD6	602931	Craniosynostosis 7, susceptibility to	AD
		Aortic valve disease 2	AD
		Radioulnar synostosis, nonsyndromic	AD
SMARCA2	600014	Blepharophimosis-impaired intellectual development syndrome	AD
SMARCA2	600014	Nicolaides-Baraitser syndrome	AD
SMARCA4	603254	Coffin-Siris syndrome 4	AD
SMARCA4	603254	Rhabdoid tumor predisposition syndrome 2	AD
SMARCAL1	606622	Schimke immunoosseous dysplasia	AR
SMARCB1	601607	Coffin-Siris syndrome 3	AD
		Rhabdoid tumor predisposition syndrome 1	AD
		Schwannomatosis-1, susceptibility to	AD
		Rhabdoid tumors, somatic	-
SMARCC2	601734	Coffin-Siris syndrome 8	AD
SMARCE1	603111	Coffin-Siris syndrome 5	AD
SMARCE1	603111	Meningioma, familial, susceptibility to	AD
SMC1A	300040	Developmental and epileptic encephalopathy 85, with or without midline brain defects	XLD
SMC1A	300040	Cornelia de Lange syndrome 2	XLD
SMC3	606062	Cornelia de Lange syndrome 3	AD
SMCHD1	614982	Bosma arhinia microphthalmia syndrome	AD
SMCHD1	614982	Fascioscapulohumeral muscular dystrophy 2, digenic	DD
SMOC1	608488	Microphthalmia with limb anomalies	AR
SMS	300105	Mental retardation, X-linked, Snyder-Robinson type	XLR
SNAI2	602150	Waardenburg syndrome, type 2D	AR
SNAI2	602150	Piebaldism	AD
SNAP29	604202	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	AR
SOS1	182530	Noonan syndrome 4	AD
SOS1	182530	?Fibromatosis, gingival, 1	AD
SOS2	601247	Noonan syndrome 9	AD
SOX10	602229	Waardenburg syndrome, type 4C	AD
		PCWH syndrome	AD
		Waardenburg syndrome, type 2E, with or without neurologic involvement	AD
SOX11	600898	Coffin-Siris syndrome 9	AD
SOX2	184429	Microphthalmia, syndromic 3	AD
SOX2	184429	Optic nerve hypoplasia and abnormalities of the central nervous system	AD
SOX9	608160	Acampomelic campomelic dysplasia	AD
		Campomelic dysplasia	AD
		Campomelic dysplasia with autosomal sex reversal	AD
SP7	606633	Osteogenesis imperfecta, type XII	AR
SPAG1	603395	Ciliary dyskinesia, primary, 28	AR
SPARC	182120	Osteogenesis imperfecta, type XVII	AR
SPECC1L	614140	Opitz GBBB syndrome, type II	AD
		?Facial clefting, oblique, 1	AD
		Hypertelorism, Teebi type	AD
SPRED1	609291	Legius syndrome	AD
SPRY4	607984	Hypogonadotropic hypogonadism 17 with or without anosmia	AD
STAMBP	606247	Microcephaly-capillary malformation syndrome	AR
STIL	181590	Microcephaly 7, primary, autosomal recessive	AR
STRA6	610745	Microphthalmia, isolated, with coloboma 8	AR
STRA6	610745	Microphthalmia, syndromic 9	AR
SUFU	607035	Meningioma, familial, susceptibility to	AD
		Basal cell nevus syndrome	AD
		Medulloblastoma, desmoplastic	AD, AR, SM
		Joubert syndrome 32	AR
SYT2	600104	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	AR
SYT2	600104	Myasthenic syndrome, congenital, 7, presynaptic	AD
TAF6	602955	Alazami-Yuan syndrome	AR
TBC1D20	611663	Warburg micro syndrome 4	AR
TBC1D23	617687	Pontocerebellar hypoplasia, type 11	AR
TBC1D24	613577	Deafness, autosomal dominant 65	AD
		Deafness, autosomal recessive 86	AR
		Myoclonic epilepsy, infantile, familial	AR
		Developmental and epileptic encephalopathy 16	AR
		DOORS syndrome	AR
		Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp	AR
TBX1	602054	Velocardiofacial syndrome	AD
		Tetralogy of Fallot	AD
		DiGeorge syndrome	AD
		Conotruncal anomaly face syndrome	-
TBX15	604127	Cousin syndrome	AR
TBX2	600747	Vertebral anomalies and variable endocrine and T-cell dysfunction	AD
TBX22	300307	?Abruzzo-Erickson syndrome	XL
TBX22	300307	Cleft palate with ankyloglossia	XL
TBX3	601621	Ulnar-mammary syndrome	AD
TBX5	601620	Holt-Oram syndrome	AD
TBX6	602427	Spondylocostal dysostosis 5	AD, AR
TCF12	600480	Craniosynostosis 3	AD
TCF12	600480	Hypogonadotropic hypogonadism 26 with or without anosmia	AD, AR
TCF4	602272	Pitt-Hopkins syndrome	AD
TCF4	602272	Corneal dystrophy, Fuchs endothelial, 3	AD
TCOF1	606847	Treacher Collins syndrome 1	AD
TCTN1	609863	Joubert syndrome 13	AR
TCTN2	613846	?Meckel syndrome 8	AR
TCTN2	613846	Joubert syndrome 24	AR
TCTN3	613847	Joubert syndrome 18	AR
TCTN3	613847	Orofaciodigital syndrome IV	AR
TENM3	610083	Microphthalmia, syndromic 15	AR
TENM3	610083	?Microphthalmia, isolated, with coloboma 9	AR
TENT5A	611357	Osteogenesis imperfecta, type XVIII	AR
TFAP2A	107580	Branchiooculofacial syndrome	AD
TGDS	616146	Catel-Manzke syndrome	AR
TGFB1	190180	Camurati-Engelmann disease	AD
		Cystic fibrosis lung disease, modifier of	AR
		Inflammatory bowel disease, immunodeficiency, and encephalopathy	AR
TGFB2	190220	Loeys-Dietz syndrome 4	AD
TGFB3	190230	Loeys-Dietz syndrome 5	AD
TGFB3	190230	Arrhythmogenic right ventricular dysplasia 1	AD
TGFBR1	190181	Loeys-Dietz syndrome 1	AD
TGFBR1	190181	Multiple self-healing squamous epithelioma, susceptibility to	AD
TGFBR2	190182	Colorectal cancer, hereditary nonpolyposis, type 6	-
		Loeys-Dietz syndrome 2	AD
		Esophageal cancer, somatic	-
TGIF1	602630	Holoprosencephaly 4	AD
TK2	188250	Mitochondrial DNA depletion syndrome 2 (myopathic type)	AR
TK2	188250	?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	AR
TMCO1	614123	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	AR
TMEM138	614459	Joubert syndrome 16	AR
TMEM216	613277	Meckel syndrome 2	AR
TMEM216	613277	Joubert syndrome 2	AR
TMEM231	614949	Joubert syndrome 20	AR
TMEM231	614949	Meckel syndrome 11	AR
TMEM237	614423	Joubert syndrome 14	AR
TMEM67	609884	COACH syndrome 1	AR
		?RHYNS syndrome	AR
		Meckel syndrome 3	AR
		Joubert syndrome 6	AR
		Bardet-Biedl syndrome 14, modifier of	AR
		Nephronophthisis 11	AR
TMEM70	612418	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	AR
TMTC3	617218	Lissencephaly 8	AR
TNFRSF11B	602643	Paget disease of bone 5, juvenile-onset	AR
TNNI2	191043	Arthrogryposis, distal, type 2B1	AD
TNNT1	191041	Nemaline myopathy 5, Amish type	AR
TNNT3	600692	Arthrogryposis, distal, type 2B2	AD
TNXB	600985	Vesicoureteral reflux 8	AD
TNXB	600985	Ehlers-Danlos syndrome, classic-like, 1	AR
TOE1	613931	Pontocerebellar hypoplasia, type 7	AR
TOR1A	605204	Dystonia-1, torsion	AD
TOR1A	605204	Arthrogryposis multiplex congenita 5	AR
TP63	603273	Rapp-Hodgkin syndrome	AD
		Orofacial cleft 8	-
		Limb-mammary syndrome	AD
		Split-hand/foot malformation 4	AD
		Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	AD
		Hay-Wells syndrome	AD
		ADULT syndrome	AD
TPM2	190990	Arthrogryposis, distal, type 2B4	AD
		Arthrogryposis, distal, type 1A	AD
		CAP myopathy 2	AD
		Nemaline myopathy 4, autosomal dominant	AD
TPM3	191030	Myopathy, congenital, with fiber-type disproportion	AD, AR
		Nemaline myopathy 1, autosomal dominant or recessive	AD, AR
		CAP myopathy 1	AD, AR
TRAF3IP1	607380	Senior-Loken syndrome 9	AR
TRIM32	602290	Muscular dystrophy, limb-girdle, autosomal recessive 8	AR
TRIM32	602290	?Bardet-Biedl syndrome 11	AR
TRIP11	604505	Achondrogenesis, type IA	AR
TRIP11	604505	Osteochondrodysplasia	AR
TRMT10A	616013	Microcephaly, short stature, and impaired glucose metabolism 1	AR
TRPS1	604386	Trichorhinophalangeal syndrome, type I	AD
TRPS1	604386	Trichorhinophalangeal syndrome, type III	AD
TRPV4	605427	SED, Maroteaux type	AD
		Spondylometaphyseal dysplasia, Kozlowski type	AD
		Metatropic dysplasia	AD
		Brachyolmia type 3	AD
		Neuronopathy, distal hereditary motor, type VIII	AD
		[Sodium serum level QTL 1]	-
		?Avascular necrosis of femoral head, primary, 2	AD
		Scapuloperoneal spinal muscular atrophy	AD
		Parastremmatic dwarfism	AD
		Hereditary motor and sensory neuropathy, type IIc	AD
		Digital arthropathy-brachydactyly, familial	AD
TSC1	605284	Lymphangioleiomyomatosis	-
		Focal cortical dysplasia, type II, somatic	-
		Tuberous sclerosis-1	AD
TSC2	191092	?Focal cortical dysplasia, type II, somatic	-
		Lymphangioleiomyomatosis, somatic	-
		Tuberous sclerosis-2	AD
TSEN15	608756	Pontocerebellar hypoplasia, type 2F	AR
TSEN2	608753	Pontocerebellar hypoplasia type 2B	AR
TSEN54	608755	Pontocerebellar hypoplasia type 2A	AR
		?Pontocerebellar hypoplasia type 5	AR
		Pontocerebellar hypoplasia type 4	AR
TTC21B	612014	Short-rib thoracic dysplasia 4 with or without polydactyly	AR
TTC21B	612014	Nephronophthisis 12	AD, AR
TTC8	-	Bardet-Biedl syndrome 8	AR
TTC8	-	?Retinitis pigmentosa 51	AR
TUBA1A	602529	Lissencephaly 3	AD
TUBA8	605742	Macrothrombocytopenia, isolated, 2, autosomal dominant	-
TUBA8	605742	Cortical dysplasia, complex, with other brain malformations 8	AR
TUBB	191130	Symmetric circumferential skin creases, congenital, 1	AD
TUBB	191130	Cortical dysplasia, complex, with other brain malformations 6	AD
TUBB2A	615101	Cortical dysplasia, complex, with other brain malformations 5	AD
TUBB2B	612850	Cortical dysplasia, complex, with other brain malformations 7	AD
TUBB3	602661	Cortical dysplasia, complex, with other brain malformations 1	AD
TUBB3	602661	Fibrosis of extraocular muscles, congenital, 3A	AD
TUBG1	191135	Cortical dysplasia, complex, with other brain malformations 4	AD
TUBGCP4	609610	Microcephaly and chorioretinopathy, autosomal recessive, 3	AR
TUBGCP6	610053	Microcephaly and chorioretinopathy, autosomal recessive, 1	AR
TWIST1	601622	Craniosynostosis 1	AD
		Robinow-Sorauf syndrome	AD
		Saethre-Chotzen syndrome with or without eyelid anomalies	AD
		Sweeney-Cox syndrome	AD
TXNL4A	611595	Burn-McKeown syndrome	AR
TYR	606933	[Skin/hair/eye pigmentation 3, light/dark/freckling skin]	AD
		Waardenburg syndrome/albinism, digenic	-
		[Skin/hair/eye pigmentation 3, blue/green eyes]	AD
		Melanoma, cutaneous malignant, susceptibility to, 8	AD
		Albinism, oculocutaneous, type IA	AR
		Albinism, oculocutaneous, type IB	AR
UBA1	314370	VEXAS syndrome, somatic	-
UBA1	314370	Spinal muscular atrophy, X-linked 2, infantile	XLR
VAMP1	185880	Myasthenic syndrome, congenital, 25	AR
VAMP1	185880	Spastic ataxia 1, autosomal dominant	AD
VCAN	118661	Wagner syndrome 1	AD
VIPAS39	613401	Arthrogryposis, renal dysfunction, and cholestasis 2	AR
VLDLR	192977	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1	AR
VPS13B	607817	Cohen syndrome	AR
VPS33B	608552	Arthrogryposis, renal dysfunction, and cholestasis 1	AR
		Cholestasis, progressive familial intrahepatic, 12	-
		Keratoderma-ichthyosis-deafness syndrome, autosomal recessive	-
VPS53	615850	Pontocerebellar hypoplasia, type 2E	AR
VRK1	602168	Pontocerebellar hypoplasia type 1A	AR
VSX2	142993	Microphthalmia, isolated 2	-
VSX2	142993	Microphthalmia with coloboma 3	-
WDPCP	613580	Congenital heart defects, hamartomas of tongue, and polysyndactyly	AR
WDPCP	613580	?Bardet-Biedl syndrome 15	AR
WDR11	606417	Hypogonadotropic hypogonadism 14 with or without anosmia	AD
WDR19	608151	?Cranioectodermal dysplasia 4	AR
		?Short-rib thoracic dysplasia 5 with or without polydactyly	AR
		Nephronophthisis 13	AR
		?Spermatogenic failure 72	-
		Senior-Loken syndrome 8	AR
WDR35	613602	Cranioectodermal dysplasia 2	AR
WDR35	613602	Short-rib thoracic dysplasia 7 with or without polydactyly	AR
WDR62	613583	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	AR
WNT1	164820	Osteogenesis imperfecta, type XV	AR
WNT1	164820	Osteoporosis, early-onset, susceptibility to, autosomal dominant	-
WNT5A	164975	Robinow syndrome, autosomal dominant 1	AD
WNT7A	601570	Fuhrmann syndrome	AR
WNT7A	601570	Ulna and fibula, absence of, with severe limb deficiency	AR
XYLT1	-	Desbuquois dysplasia 2	AR
XYLT1	-	Pseudoxanthoma elasticum, modifier of severity of	AR
ZBTB24	614064	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	AR
ZC4H2	300897	Wieacker-Wolff syndrome	XLR
ZC4H2	300897	Wieacker-Wolff syndrome, female-restricted	XLD
ZEB2	605802	Mowat-Wilson syndrome	AD
ZFPM2	603693	Tetralogy of Fallot	AD
		Diaphragmatic hernia 3	-
		46XY sex reversal 9	AD
ZIC1	600470	Structural brain anomalies with impaired intellectual development and craniosynostosis	AD
ZIC1	600470	?Craniosynostosis 6	AD
ZIC2	603073	Holoprosencephaly 5	AD
ZIC3	300265	VACTERL association, X-linked	XLR
		Congenital heart defects, nonsyndromic, 1, X-linked	XLR
		Heterotaxy, visceral, 1, X-linked	XLR
ZMYND10	607070	Ciliary dyskinesia, primary, 22	AR
ZNF335	610827	Microcephaly 10, primary, autosomal recessive	AR
ZNF423	604557	Joubert syndrome 19	AD, AR
ZNF423	604557	Nephronophthisis 14	AD, AR
ZNF469	612078	Brittle cornea syndrome 1	AR
ZNF699	609571	DEGCAGS syndrome	AR
ZSWIM6	615951	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	AD
ZSWIM6	615951	Acromelic frontonasal dysostosis	AD

Common syndromes and disorders covered

Bardet-Biedl syndrome
Cardiofaciocutaneous syndrome
Cerebral cavernous malformations
Ciliopathies
Cleft lip and palate
Coffin-Siris syndrome
Cornelia de Lange syndrome
Ciliopathic skeletal dysplasias
Craniosynostosis and craniofacial disorders
Heterotaxy syndrome
Hirschsprung disease
Holoprosencephaly
Klippel-Feil syndrome
Lissencephaly and brain malformation
Meckel syndrome
Metaphyseal dysplasia
Micro syndrome
Microphthalmia/anophthalmia/coloboma spectrum
Multiple epiphyseal dysplasia
Neurofibromatosis
Noonan-RASopathies syndromes
Seckel syndrome
Skeletal dysplasia extended
Stickler syndrome
Tuberous sclerosis
Waardenburg syndrome

Connective tissue and related disorders panel

Our connective tissue and related disorders panel provides a profound one-step evaluation of several genes to detect different disorders with similar phenotypes, such as Marfan Syndrome, Loeys-Dietz, cutis laxa, Ehlers-Danlos, Stickler syndrome, and Familial thoracic aortic aneurysm and dissection.

No. of genes:	76
TAT:	25 business days
Coverage:	≥99.00% ≥20x
Details:	NGS including CNV analysis

Order now Sample Requirements

Gene	OMIM (Gene)	Associated diseases (OMIM)	Inheritance
ABCC6	603234	Pseudoxanthoma elasticum, forme fruste	AD
		Arterial calcification, generalized, of infancy, 2	AR
		Pseudoxanthoma elasticum	AR
ACTA2	102620	Aortic aneurysm, familial thoracic 6	AD
		Moyamoya disease 5	-
		Multisystemic smooth muscle dysfunction syndrome	AD
ADAMTS2	604539	Ehlers-Danlos syndrome, dermatosparaxis type	AR
ADAMTSL2	612277	Geleophysic dysplasia 1	AR
AEBP1	602981	Ehlers-Danlos syndrome, classic-like, 2	AR
ALDH18A1	138250	Cutis laxa, autosomal dominant 3	AD
		Cutis laxa, autosomal recessive, type IIIA	AR
		Spastic paraplegia 9B, autosomal recessive	AR
		Spastic paraplegia 9A, autosomal dominant	AD
ATP6V0A2	611716	Cutis laxa, autosomal recessive, type IIA	AR
ATP6V0A2	611716	Wrinkly skin syndrome	AR
ATP6V1A	607027	Epileptic encephalopathy, infantile or early childhood, 3	AD
ATP6V1A	607027	Cutis laxa, autosomal recessive, type IID	AR
ATP6V1E1	108746	Cutis laxa, autosomal recessive, type IIC	AR
ATP7A	300011	Menkes disease	XLR
		Occipital horn syndrome	XLR
		Spinal muscular atrophy, distal, X-linked 3	XLR
B3GAT3	606374	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	AR
B4GALT7	604327	Ehlers-Danlos syndrome, spondylodysplastic type, 1	AR
BGN	301870	Meester-Loeys syndrome	XL
BGN	301870	Spondyloepimetaphyseal dysplasia, X-linked	XLR
C1R	613785	Ehlers-Danlos syndrome, periodontal type, 1	AD
C1S	120580	C1s deficiency	-
C1S	120580	Ehlers-Danlos syndrome, periodontal type, 2	AD
CBS	613381	Thrombosis, hyperhomocysteinemic	AR
CBS	613381	Homocystinuria, B6-responsive and nonresponsive types	AR
CHST14	608429	Ehlers-Danlos syndrome, musculocontractural type 1	AR
COL11A1	120280	Marshall syndrome	AD
		Fibrochondrogenesis 1	AR
		Lumbar disc herniation, susceptibility to	-
		?Deafness, autosomal dominant 37	AD
		Stickler syndrome, type II	AD
COL11A2	120290	Deafness, autosomal recessive 53	AR
		Otospondylomegaepiphyseal dysplasia, autosomal recessive	AR
		Fibrochondrogenesis 2	AD, AR
		Otospondylomegaepiphyseal dysplasia, autosomal dominant	AD
		Deafness, autosomal dominant 13	AD
COL12A1	120320	?Ullrich congenital muscular dystrophy 2	AR
COL12A1	120320	Bethlem myopathy 2	AD
COL1A1	120150	Ehlers-Danlos syndrome, arthrochalasia type, 1	AD
		Bone mineral density variation QTL, osteoporosis	AD
		Osteogenesis imperfecta, type III	AD
		Osteogenesis imperfecta, type I	AD
		Caffey disease	AD
		Osteogenesis imperfecta, type IV	AD
		Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1	AD
		Osteogenesis imperfecta, type II	AD
COL1A2	120160	Osteoporosis, postmenopausal	AD
		Ehlers-Danlos syndrome, cardiac valvular type	AR
		Ehlers-Danlos syndrome, arthrochalasia type, 2	AD
		Osteogenesis imperfecta, type III	AD
		Osteogenesis imperfecta, type IV	AD
		Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2	AD
		Osteogenesis imperfecta, type II	AD
COL2A1	120140	Legg-Calve-Perthes disease	AD
		Stickler syndrome, type I	AD
		Osteoarthritis with mild chondrodysplasia	AD
		Platyspondylic skeletal dysplasia, Torrance type	AD
		Spondyloepiphyseal dysplasia, Stanescu type	AD
		Kniest dysplasia	AD
		Czech dysplasia	AD
		Stickler sydrome, type I, nonsyndromic ocular	AD
		?Vitreoretinopathy with phalangeal epiphyseal dysplasia	AD
		?Epiphyseal dysplasia, multiple, with myopia and deafness	AD
		Avascular necrosis of the femoral head	AD
		Spondyloperipheral dysplasia	AD
		Achondrogenesis, type II or hypochondrogenesis	AD
		SMED Strudwick type	AD
		SED congenita	AD
COL3A1	120180	Ehlers-Danlos syndrome, vascular type	AD
COL3A1	120180	Polymicrogyria with or without vascular-type EDS	AR
COL5A1	120215	Fibromuscular dysplasia, multifocal	AD
COL5A1	120215	Ehlers-Danlos syndrome, classic type, 1	AD
COL5A2	120190	Ehlers-Danlos syndrome, classic type, 2	AD
COL9A1	120210	?Epiphyseal dysplasia, multiple, 6	AD
COL9A1	120210	Stickler syndrome, type IV	-
COL9A2	120260	?Stickler syndrome, type V	AR
COL9A2	120260	Epiphyseal dysplasia, multiple, 2	AD
COL9A3	120270	Epiphyseal dysplasia, multiple, 3, with or without myopathy	AD
		Intervertebral disc disease, susceptibility to	-
		Stickler syndrome, type VI	-
CREB3L1	616215	Osteogenesis imperfecta, type XVI	AR
DSE	605942	Ehlers-Danlos syndrome, musculocontractural type 2	AR
EFEMP2	604633	Cutis laxa, autosomal recessive, type IB	AR
ELN	130160	Cutis laxa, autosomal dominant	AD
ELN	130160	Supravalvar aortic stenosis	AD
FBLN5	604580	Cutis laxa, autosomal recessive, type IA	AR
		Neuropathy, hereditary, with or without age-related macular degeneration	AD
		Charcot-Marie-Tooth disease, demyelinating, type 1H	AD
		Macular degeneration, age-related, 3	AD
		?Cutis laxa, autosomal dominant 2	AD
FBN1	134797	Marfan lipodystrophy syndrome	AD
		Geleophysic dysplasia 2	AD
		Acromicric dysplasia	AD
		Marfan syndrome	AD
		Weill-Marchesani syndrome 2, dominant	AD
		Stiff skin syndrome	AD
		MASS syndrome	AD
		Ectopia lentis, familial	AD
FBN2	612570	Contractural arachnodactyly, congenital	AD
FBN2	612570	Macular degeneration, early-onset	AD
FKBP14	614505	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	AR
FLCN	607273	Birt-Hogg-Dube syndrome	AD
		Pneumothorax, primary spontaneous	AD
		Renal carcinoma, chromophobe, somatic	-
		Colorectal cancer, somatic	-
FLNA	300017	Frontometaphyseal dysplasia 1	XLR
		Heterotopia, periventricular, 1	XLD
		Terminal osseous dysplasia	XLD
		Congenital short bowel syndrome	XLR
		Otopalatodigital syndrome, type II	XLD
		Melnick-Needles syndrome	XLD
		Cardiac valvular dysplasia, X-linked	XL
		Intestinal pseudoobstruction, neuronal	XLR
		?FG syndrome 2	XL
		Otopalatodigital syndrome, type I	XLD
GORAB	607983	Geroderma osteodysplasticum	AR
ITGB4	147557	Epidermolysis bullosa, junctional, non-Herlitz type	AR
		Epidermolysis bullosa, junctional 5A, intermediate	-
		Epidermolysis bullosa of hands and feet	AD
		Epidermolysis bullosa, junctional, with pyloric atresia	AR
LAMA3	600805	Laryngoonychocutaneous syndrome	AR
		Epidermolysis bullosa, junctional, Herlitz type	AR
		Epidermolysis bullosa, junctional 2B, severe	-
		Epidermolysis bullosa, generalized atrophic benign	AR
		Epidermolysis bullosa, junctional 2A, intermediate	-
LAMB3	150310	Epidermolysis bullosa, junctional, non-Herlitz type	AR
		Amelogenesis imperfecta, type IA	AD
		Epidermolysis bullosa, junctional, Herlitz type	AR
LAMC2	150292	Epidermolysis bullosa, junctional, non-Herlitz type	AR
		Epidermolysis bullosa, junctional, Herlitz type	AR
		Epidermolysis bullosa, junctional 3B, severe	-
		Epidermolysis bullosa, junctional 3A, intermediate	-
LOX	153455	Aortic aneurysm, familial thoracic 10	AD
LRP2	600073	Donnai-Barrow syndrome	AR
LTBP3	602090	Geleophysic dysplasia 3	AD
LTBP3	602090	Dental anomalies and short stature	AR
MBTPS2	300294	Osteogenesis imperfecta, type XIX	XLR
		?Olmsted syndrome, X-linked	XLR
		Keratosis follicularis spinulosa decalvans, X-linked	XLR
		IFAP syndrome with or without BRESHECK syndrome	XLR
MED12	300188	Opitz-Kaveggia syndrome	XLR
		Lujan-Fryns syndrome	XLR
		Ohdo syndrome, X-linked	XLR
		Hardikar syndrome	XLD
MFAP5	601103	Aortic aneurysm, familial thoracic 9	AD
MYH11	160745	Aortic aneurysm, familial thoracic 4	AD
		Visceral myopathy 2	AD
		Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	AR
MYLK	600922	Aortic aneurysm, familial thoracic 7	AD
MYLK	600922	Megacystis-microcolon-intestinal hypoperistalsis syndrome	AR
NOTCH1	190198	Adams-Oliver syndrome 5	AD
NOTCH1	190198	Aortic valve disease 1	AD
PLOD1	153454	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	AR
PRDM5	614161	Brittle cornea syndrome 2	AR
PRKG1	176894	Aortic aneurysm, familial thoracic 8	AD
PYCR1	179035	Cutis laxa, autosomal recessive, type IIB	AR
PYCR1	179035	Cutis laxa, autosomal recessive, type IIIB	AR
RIN2	610222	Macrocephaly, alopecia, cutis laxa, and scoliosis	AR
SKI	164780	Shprintzen-Goldberg syndrome	AD
SLC2A10	606145	Arterial tortuosity syndrome	AR
SLC39A13	608735	Ehlers-Danlos syndrome, spondylodysplastic type, 3	AR
SMAD2	601366	Loeys-Dietz syndrome 6	AD
SMAD2	601366	Congenital heart defects, multiple types, 8, with or without heterotaxy	AD
SMAD3	603109	Loeys-Dietz syndrome 3	AD
SMAD4	600993	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	AD
		Pancreatic cancer, somatic	-
		Myhre syndrome	AD
		Polyposis, juvenile intestinal	AD
SMAD6	602931	Craniosynostosis 7, susceptibility to	AD
		Aortic valve disease 2	AD
		Radioulnar synostosis, nonsyndromic	AD
SP7	606633	Osteogenesis imperfecta, type XII	AR
SPARC	182120	Osteogenesis imperfecta, type XVII	AR
TENT5A	611357	Osteogenesis imperfecta, type XVIII	AR
TGFB2	190220	Loeys-Dietz syndrome 4	AD
TGFB3	190230	Loeys-Dietz syndrome 5	AD
TGFB3	190230	Arrhythmogenic right ventricular dysplasia 1	AD
TGFBR1	190181	Loeys-Dietz syndrome 1	AD
TGFBR1	190181	Multiple self-healing squamous epithelioma, susceptibility to	AD
TGFBR2	190182	Colorectal cancer, hereditary nonpolyposis, type 6	-
		Loeys-Dietz syndrome 2	AD
		Esophageal cancer, somatic	-
TNXB	600985	Vesicoureteral reflux 8	AD
TNXB	600985	Ehlers-Danlos syndrome, classic-like, 1	AR
VCAN	118661	Wagner syndrome 1	AD
WNT1	164820	Osteogenesis imperfecta, type XV	AR
WNT1	164820	Osteoporosis, early-onset, susceptibility to, autosomal dominant	-
ZNF469	612078	Brittle cornea syndrome 1	AR

Common syndromes and disorders covered

Cutis laxa
Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and dissection
Loeys-Dietz syndrome
Marfan syndrome
Osteogenesis imperfecta
Stickler syndrome

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Dysmorphology

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CentoPortal® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.

CentoPortal^® is a user-friendly, online, web-based ordering portal designed to assist you at every step of processing your patients' samples.