mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures Disease Ontology Browser

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mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures (DOID:0070751)
Alliance: disease page
Synonyms: NEMMLAS
Alt IDs: OMIM:617710, ORDO:572798, UMLS_CUI:C4540192
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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