neurodevelopmental disorder with ataxia and brain abnormalities Disease Ontology Browser

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Disease Ontology Browser

neurodevelopmental disorder with ataxia and brain abnormalities (DOID:0070808)
Alliance: disease page
Synonyms: NEDAXBA
Alt IDs: OMIM:621199, UMLS_CUI:C6012724
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.

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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