Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
MIM:616531 - NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES; NEDSPLB

Xenbase Genes: pi4ka

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014679 - distal interphalangeal joint of digit 4
MONDO:0017091 - bilateral polymicrogyria
MONDO:0020340 - bilateral perisylvian polymicrogyria