HOXA1
Athabaskan brainstem dysgenesis syndrome, Bosley-Salih-Alorainy syndrome
AR
HRAS
Costello syndrome, Congenital myopathy with excess of muscle spindles
AD
JAG1
Alagille syndrome
AD
KDM6A
Kabuki syndrome
XL
KMT2D
Kabuki syndrome
AD
KRAS*
Noonan syndrome, Cardiofaciocutaneous syndrome
AD
KYNU
Hydroxykynureninuria, Vertebral, cardiac, renal, and limb defects syndrome 2
AR
LEFTY2*
Left-right axis malformations
AD
LZTR1
Schwannomatosis, Noonan syndrome
AD/AR
MED12
Ohdo syndrome, Mental retardation, with Marfanoid habitus, FG syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndrome
XL
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
MEGF8
Carpenter syndrome 2
AR
MEIS2
Cleft palate, cardiac defects, and mental retardation (CPCMR)
AD
MMP21
Heterotaxy, visceral, 7
AR
MYCN
Feingold syndrome
AD
MYO18B
Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
AR
MYRF
Congenital heart malformations, Congenital abnormalities of the kidney and urinary tract
AD
NAA15
Congenital heart malformations
AD
NEXN
Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)
AD
NF1*
Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndrome
AD
NIPBL
Cornelia de Lange syndrome
AD
NKX2-5
Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,, Atrial septal defect, Ventricular septal defect 3, Conotruncal heart malformations, variable, Tetralogy of Fallot
AD
NKX2-6
Persistent truncus arteriosus, Conotruncal heart malformations
AD/AR
NODAL
Heterotaxy, visceral
AD
NONO
Mental retardation, X-linked, syndrome 34, Left ventricular non-compaction cardiomyopathy (LVNC)
XL
