| Metadata | |
|---|---|
| ID | DOID:0070754 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070754 Copy |
| Name | neurodevelopmental disorder with microcephaly, ataxia, and seizures |
| 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. https://pubmed.ncbi.nlm.nih.gov/34570399/ |
| Xrefs | |
| SKOS |
exactMatch MIM:617709 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDMAS [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |