Term Name: neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder