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Metadata
ID DOID:0060269
Name pontocerebellar hypoplasia type 2C
Definition A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.
https://www.omim.org/entry/612390
Xrefs

MESH:C567324

OMIM:612390

ORDO:2524

UMLS_CUI:C2676465

Subsets

DO_rare_slim

Parent Relationships

is_a pontocerebellar hypoplasia type 2

is_a autosomal recessive disease

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