CASZ1
Dilated cardiomyopathy (DCM), Ventricular septal defect
AD
C2CD3
Orofaciodigital syndrome XIV
AR
C12ORF57
Corpus callosum hypoplasia, recessive, Temtamy syndrome
AR
BRAF*
LEOPARD syndrome, Noonan syndrome, Cardiofaciocutaneous syndrome
AD
BMPR2
Pulmonary hypertension, primary, Pulmonary venoocclusive disease
AD
BCOR
Microphthalmia, syndromic, Oculofaciocardiodental syndrome
XL
B3GAT3#*
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
AR
ARID1B
Coffin-Siris syndrome, Mental retardation
AD
ARID1A
Coffin-Siris syndrome, Mental retardation
AD
ARHGAP31
Adams-Oliver syndrome
AD
AMMECR1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
XL
AFF4
Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature, and skeletal dysplasia (CHOPS syndrome)
AD
ADAMTS17
Weill-Marchesani-like syndrome
AR
ADAMTS10
Weill-Marchesani syndrome
AR
ACVR2B
Heterotaxy, visceral, 4, autosomal
AD
ACVR1
Fibrodysplasia ossificans progressiva
AD
ACTG1*
Deafness, Baraitser-Winter syndrome
AD
ACTC1
Left ventricular noncompaction, Hypertrophic cardiomyopathy (HCM), Cardiomyopathy, restrictive, Atrial septal defect, Dilated cardiomyopathy (DCM)
AD
ACTB*
Baraitser-Winter syndrome
AD
ACTA2
Aortic aneurysm, familial thoracic, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome
AD
ABL1
Congenital heart defects and skeletal malformations syndrome (CHDSKM)
AD
TRDN
Ventricular tachycardia, catecholaminergic polymorphic
AR
TECRL
Ventricular tachycardia, catecholaminergic polymorphic, 3
AR
RYR2
Ventricular tachycardia, catecholaminergic polymorphic, Arrhythmogenic right ventricular dysplasia
AD
LMNA
Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type
AD/AR
