neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity

Term ID

DOID:0070832

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. https://pubmed.ncbi.nlm.nih.gov/31735293/

References

• MIM:618730
• UMLS_CUI:C5231480

Ontology

Human Disease   ( DOID:0070832 )