DISEASES

Disease-gene associations mined from literature

Human genes for infantile cerebellar-retinal degeneration

Infantile cerebellar-retinal degeneration [DOID:0050883]

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.

Synonyms:  infantile cerebellar-retinal degeneration,  DOID:0050883,  infantile cerebellarretinal degeneration