| Term Name: | neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
|---|---|
| Synonyms: | NDMSCA |
| 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. |
| Ontology: | Human Disease [DOID:0070755] ( DOID:0070755 ) |