| Metadata | |
|---|---|
| ID | DOID:0070751 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070751 Copy |
| Name | mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures |
| Definition | An autosomal recessive intellectual developmental disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the WARS2 gene on chromosome 1p12. https://pubmed.ncbi.nlm.nih.gov/28905505/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1260128008 |
| SKOS |
exactMatch MIM:617710 exactMatch ORDO:572798 exactMatch UMLS_CUI:C4540192 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEMMLAS [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has feature some lactic acidosis |