| Metadata | |
|---|---|
| ID | DOID:0070808 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070808 Copy |
| Name | neurodevelopmental disorder with ataxia and brain abnormalities |
| Definition | A mitochondrial metabolism disease characterized by developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy, and bulbar dysfunction with neonatal/infantile onset that has_material_basis_in homozygous mutation in the PTPMT1 gene on chromosome 11p11. https://pubmed.ncbi.nlm.nih.gov/39279645/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621199 exactMatch UMLS_CUI:C6012724 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDAXBA [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |