| Metadata | |
|---|---|
| ID | DOID:0070832 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070832 Copy |
| Name | neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:618730 exactMatch UMLS_CUI:C5231480 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDMCMS [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |