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Summary Literature (0)
MIM:616158 - NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES; NEDRIHF

Xenbase Genes: pura

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014512 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
MONDO:0018580 - obsolete PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Disease Ontology (DO):
DOID:0070061 - autosomal dominant intellectual developmental disorder 31