Genes associated with “megalencephaly”
How are genes scored? (0–100 composite)
Strong Candidates
8 genesConsider
25 genesPossible
469 genes — click to expand
L1 cell adhesion molecule
Megalencephaly
Hemimegalencephaly
kinesin family member 6
SWI/SNF related BAF chromatin remodeling complex subunit B1
Hemimegalencephaly
Hemimegalencephaly
Megalencephaly
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
heterogeneous nuclear ribonucleoprotein H2
dynein regulatory complex subunit 4
dynein axonemal intermediate chain 1
coiled-coil domain 39 molecular ruler complex subunit
dynein regulatory complex subunit 1
forkhead box J1
collagen type XVIII alpha 1 chain
membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7
glycine decarboxylase
phospholipase C beta 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.