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Metadata
DOID DOID:0060275
Name pontocerebellar hypoplasia type 6
Definition A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene.
https://www.omim.org/entry/611523
Xrefs

GARD:10710

MESH:C548074

OMIM:611523

ORDO:166073

UMLS_CUI:C1969084

Subsets

DO_rare_slim

Relationships

is_a pontocerebellar hypoplasia

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