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Summary Literature (0)
MIM:616531 - NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES; NEDSPLB

Xenbase Genes: pi4ka

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014679 - polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
MONDO:0017091 - bilateral polymicrogyria
MONDO:0020340 - bilateral perisylvian polymicrogyria