| Term Name: | neurodevelopmental disorder with microcephaly, ataxia, and seizures |
|---|---|
| Synonyms: | NEDMAS |
| Definition: | An autosomal recessive intellectual developmental disorder characterized by global developmental delay and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SARS1 gene on chromosome 1p13. |
| Ontology: | Human Disease [DOID:0070754] ( DOID:0070754 ) |