OBO ID: DOID:0050754
Term Name: ataxia with oculomotor apraxia type 1 Search Ontology:
Synonyms:
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
References:
Ontology: Human Disease   ( DOID:0050754 )
Relationships
is a type of:
OTHER ataxia with oculomotor apraxia type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 208920
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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