ARID1A
Coffin-Siris syndrome, Mental retardation
AD
ARID1B
Coffin-Siris syndrome, Mental retardation
AD
B3GAT3#*
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
AR
BCOR
Microphthalmia, syndromic, Oculofaciocardiodental syndrome
XL
BMPR2
Pulmonary hypertension, primary, Pulmonary venoocclusive disease
AD
BRAF*
LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndrome
AD
C12ORF57
Corpus callosum hypoplasia, recessive, Temtamy syndrome
AR
C2CD3
Orofaciodigital syndrome XIV
AR
CASZ1
Dilated cardiomyopathy (DCM), Ventricular septal defect
AD
CBL
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
AD
CDK13
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
AD
CDK9
AR
CDKN1C
Beckwith-Wiedemann syndrome, IMAGE syndrome
AD
CFAP53
Heterotaxy, visceral, 6, autosomal recessive
AR
CHD4
Sifrim-Hitz-Weiss syndrome
AD
CHD7
Isolated gonadotropin-releasing hormone deficiency, CHARGE syndrome
AD
CHRM2
Dilated cardiomyopathy (DCM)
AD/AR
CREBBP
Rubinstein-Taybi syndrome
AD
CRELD1
Atrioventricular septal defect, partial, with or without heterotaxy
AD
CTC1
Cerebroretinal microangiopathy with calcifications and cysts
AR
DHCR7
Smith-Lemli-Opitz syndrome
AR
DLL4
Adams-Oliver syndrome
AD
DOCK6
Adams-Oliver syndrome
AR
EFTUD2
Mandibulofacial dysostosis with microcephaly, Esophageal atresia, syndromic
AD
EHMT1
Kleefstra syndrome
AD
