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Metadata
DOID 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://www.omim.org/entry/610204
Xrefs

GARD:10709

MESH:C537745

OMIM:610204

ORDO:166068

UMLS_CUI:C1857762

Subsets

DO_rare_slim

Relationships

is_a pontocerebellar hypoplasia

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