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.
- Identifiers
- MONDO:0032887 OMIM:618730
- Causal genes
- TMX2
- Also known as
- NEDMCMS · TMX2-related neurodevelopmental disorder with microcephaly and cortical malformations · Vandervore-Schot syndrome
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