PRDM6
Patent ductus arteriosus 3, Congenital heart malformations
AD
PPP1CB
Noonan syndrome-like disorder with loose anagen hair 2
AD
PLD1
Cardiac valvular defect, developmental
PKD1L1
Heterotaxy, visceral, 8, autosomal
AR
PITX2
Axenfeld-Rieger syndrome, Ring dermoid of cornea, Iridogoniodysgenesis, Peters anomaly
AD
NSD1
Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndrome
AD
NR2F2
Congenital heart defects, multiple types, 4
AD
NOTCH2*
Alagille syndrome, Hajdu-Cheney syndrome
AD
NOTCH1
Aortic valve disease, Adams-Oliver syndrome
AD
NONO
Mental retardation, X-linked, syndrome 34, Left ventricular non-compaction cardiomyopathy (LVNC)
XL
NODAL
Heterotaxy, visceral
AD
NKX2-6
Persistent truncus arteriosus, Conotruncal heart malformations
AD/AR
NKX2-5
Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,, Atrial septal defect, Ventricular septal defect 3, Conotruncal heart malformations, variable, Tetralogy of Fallot
AD
NIPBL
Cornelia de Lange syndrome
AD
NF1*
Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndrome
AD
NEXN
Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)
AD
NAA15
Congenital heart malformations
AD
MYRF
Congenital heart malformations, Congenital abnormalities of the kidney and urinary tract
AD
MYO18B
Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
AR
MYCN
Feingold syndrome
AD
MMP21
Heterotaxy, visceral, 7
AR
MEIS2
Cleft palate, cardiac defects, and mental retardation (CPCMR)
AD
MEGF8
Carpenter syndrome 2
AR
MED13L
Transposition of the great arteries, dextro-looped 1, Mental retardation and distinctive facial features with or without cardiac defects, Congenital heart defects and intellectual disability, Intellectual disability, autosomal recessive
AD/AR
MED12
Ohdo syndrome, Mental retardation, with Marfanoid habitus, FG syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndrome
XL
