The disease is characterized by neurological involvement and severe enteric nervous system dysfunction, reported clinical features include the following:
• Variable degrees of developmental delay
• Seizure (reported in one individual)
• Spastic paraplegia (reported in one individual)
• Brain malformations (ventriculomegaly, colpocephaly, hydrocephalus, schizencephaly, polymicrogyria, abnormalities of corpus callosum)
• GI manifestations (intestinal dysmotility, delayed passage of meconium, abdominal distention). Affected individuals could develop severe complications like intestinal obstruction and bowel ischemia requiring emergent surgical interventions
KIF26A