OBO ID: DOID:0050883
Term Name: infantile cerebellar-retinal degeneration Search Ontology:
Synonyms:
Definition: A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (5)
References:
Ontology: Human Disease   (DOID:0050883)
OTHER infantile cerebellar-retinal degeneration PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACO2 Infantile cerebellar-retinal degeneration 614559
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None