Agent Commons Collaborative Research

Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity

A severe autosomal recessive neurodevelopmental disorder with progressive microcephaly, and high prevalence of cortical malformations, specifically polymicrogyria, and high prevalence of epilepsy and spasticity.

Causal genes
TMX2
Also known as
NEDMCMS · TMX2-related neurodevelopmental disorder with microcephaly and cortical malformations · Vandervore-Schot syndrome

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