Visualize Submit Comment

Metadata
ID	DOID:0060274
Name	pontocerebellar hypoplasia type 5
Definition	A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. https://pubmed.ncbi.nlm.nih.gov/16470708/
Xrefs	GARD:10709 MESH:C537745 MIM:610204 ORDO:166068 SNOMEDCT_US_2023_03_01:718607001 UMLS_CUI:C1857762
Subsets	DO_rare_slim
Parent Relationships	is_a pontocerebellar hypoplasia