OBO ID: DOID:0050754 |
Term Name: | ataxia with oculomotor apraxia type 1 | Search Ontology: | |
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Definition: | An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1 | ||
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Ontology: | Human Disease ( DOID:0050754 ) |
OTHER ataxia with oculomotor apraxia type 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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