| Term Name: | neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity |
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| Synonyms: | NEDMCMS |
| Definition: | An autosomal recessive intellectual developmental disorder characterized by developmental delay, microcephaly, impaired speech and ambulation, epilepsy, and cortical malformations, with a relatively wide spectrum of severity ranging from early death to intellectual disability with mild motor impairment, that has_material_basis_in homozygous or compound heterozygous mutation in the TMX2 gene on chromosome 11q12. |
| Ontology: | Human Disease [DOID:0070832] ( DOID:0070832 ) |