LZTR1
Schwannomatosis, Noonan syndrome
AD/AR
LEFTY2*
Left-right axis malformations
AD
KYNU
Hydroxykynureninuria, Vertebral, cardiac, renal, and limb defects syndrome 2
AR
KRAS*
Noonan syndrome, Cardiofaciocutaneous syndrome
AD
KMT2D
Kabuki syndrome
AD
KDM6A
Kabuki syndrome
XL
JAG1
Alagille syndrome
AD
HRAS
Costello syndrome, Congenital myopathy with excess of muscle spindles
AD
HOXA1
Athabaskan brainstem dysgenesis syndrome, Bosley-Salih-Alorainy syndrome
AR
HNRNPK*
Au-Kline syndrome
AD
HDAC8
Cornelia de Lange syndrome
XL
HAND2
Dilated cardiomyopathy (DCM), Congenital heart malformations
AD
HAND1
Congenital heart defects, Dilated cardiomyopathy
AD
GPC3
Simpson-Golabi-Behmel syndrome
XL
GJA5
Progressive familial heart block, Atrial standstill, digenic, Atrial fibrillation
AD/Digenic
GJA1*
Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3
AD/AR
GDF1
Transposition of the great arteries, dextro-looped 3, Double-outlet right ventricle
AR
GATA6
Heart defects, congenital, and other congenital anomalies, Atrial septal defect 9, atrioventricular septal defect 5, Persistent truncus arteriosus, Tetralogy of Fallot
AD
GATA5
Familial atrial fibrillation, Tetralogy of Fallot, Single ventricular septal defect
AD
GATA4*
Tetralogy of Fallot, Atrioventricular septal defect, Testicular anomalies with or without congenital heart disease, Ventricular septal defect, Atrial septal defect
AD
FOXP1
Mental retardation with language impairment and autistic features, Congenital heart malformations
AD
FOXH1
Congenital heart malformations, Holoprosencephaly
AD
FOXF1
Alveolar capillary dysplasia with misalignment of pulmonary veins
AD
FOXC1
Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly
AD
FLT4
Lymphedema, hereditary I (Milory disease)
AD/AR
