| Metadata | |
|---|---|
| ID | DOID:0070755 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070755 Copy |
| Name | neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| Definition | An autosomal recessive intellectual developmental disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth; postnatal progressive microcephaly; and early-onset, frequent, and often intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the VARS1 gene on chromosome 6p21. https://pubmed.ncbi.nlm.nih.gov/30755616/ |
| Xrefs | |
| SKOS |
exactMatch MIM:617802 |
| Subsets |
DO_rare_slim |
| Synonyms |
NDMSCA [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |