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Disease Ontology Browser
neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (DOID:0070832)
Alliance: disease page
Synonyms: NEDMCMS
Alt IDs: OMIM:618730, UMLS_CUI:C5231480
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
09/01/2026
MGI 6.24 		The Jackson Laboratory