Genes associated with “megalencephaly”
How are genes scored? (0–100 composite)
Strong Candidates
8 genesConsider
24 genesPossible
471 genes — click to expand
L1 cell adhesion molecule
Hemimegalencephaly
Megalencephaly
Hemimegalencephaly
GLI family zinc finger 3
kinesin family member 6
collagen type II alpha 1 chain
paired like homeodomain 2
nuclear factor I X
T-box transcription factor 6
Hemimegalencephaly
Megalencephaly
fibroblast growth factor 9
Hemimegalencephaly
Megalencephaly
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH
MEGALENCEPHALY-POLYDACTYLY SYNDROME; MPAPA
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3
TEEBI HYPERTELORISM SYNDROME 1; TBHS1
peroxisomal biogenesis factor 6
myosin heavy chain 10
forkhead box C1
tubulin beta 2B class IIb
heterogeneous nuclear ribonucleoprotein H2
fukutin related protein
HYDIN axonemal central pair apparatus protein
EMAP like 1
ALX homeobox 1
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.