Cerebellar hypoplasia-tapetoretinal degeneration syndrome

Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.

Also known as: cerebellar hypoplasia tapetoretinal degeneration

0 clinical trials for this condition and its sub-types, 0 tagged with Cerebellar hypoplasia-tapetoretinal degeneration syndrome itself.