infantile cerebellar-retinal degeneration
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
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infantile cerebellar-retinal degeneration
Summary
infantile cerebellar-retinal degeneration is a rare disease[1].
Key Facts
- infantile cerebellar-retinal degeneration's instance of is recorded as rare disease[2].
- infantile cerebellar-retinal degeneration's instance of is recorded as class of disease[3].
- infantile cerebellar-retinal degeneration is a type of neurodegeneration[4].
- infantile cerebellar-retinal degeneration is a type of eye degenerative disease[5].
- infantile cerebellar-retinal degeneration is a type of nervous system heredodegenerative disease[6].
- infantile cerebellar-retinal degeneration is a type of neurometabolic disease[7].
- infantile cerebellar-retinal degeneration is a type of hereditary retinal dystrophy[8].
- infantile cerebellar-retinal degeneration is a type of tricarboxylic acid cycle disorder[9].
- infantile cerebellar-retinal degeneration is a type of autosomal recessive disease[10].
- infantile cerebellar-retinal degeneration's symptoms and signs is recorded as retinal degeneration[11].
- infantile cerebellar-retinal degeneration's symptoms and signs is recorded as neonatal hypotonia[12].
- infantile cerebellar-retinal degeneration's genetic association is recorded as ACO2[13].
- infantile cerebellar-retinal degeneration's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050883[14].
- infantile cerebellar-retinal degeneration's exact match is recorded as http://identifiers.org/doid/DOID:0050883[15].
- infantile cerebellar-retinal degeneration's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_313850[16].
- infantile cerebellar-retinal degeneration's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].