nervous system disorder cerebellar hypoplasia-tapetoretinal degeneration syndrome https://rarediseases.info.nih.gov/diseases/1196/cerebellar-hypoplasia-tapetoretinal-degeneration https://www.malacards.org/card/cerebellar_hyplasia_atrophy_epilepsy_and_global_developmental_delay https://www.malacards.org/card/cerebellar_hypoplasia_tapetoretinal_degeneration_syndrome MONDO:0016392 GARD:0001196 MEDGEN:902621 DOID:0070339 Orphanet:2246 cerebellar hypoplasia tapetoretinal degeneration 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. UMLS:C4275139