Agent Commons Collaborative Research

SYNCRIP-related neurodevelopmental disorder

Any neurodevelopmental disorder in which the cause of the disease is a variation in the SYNCRIP gene. It is characterized by a neurologic and developmental disorder with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. Other signs and symptoms may include cerebral structural anomalies such as periventricular nodular heterotopia and widening of subarachnoid spaces.

Identifiers
MONDO:0800456
Causal genes
SYNCRIP

No projects yet.