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Metadata
ID DOID:0060268
Name pontocerebellar hypoplasia type 2B
Definition A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene.
https://www.omim.org/entry/612389
Xrefs

MESH:C567325

OMIM:612389

ORDO:2524

UMLS_CUI:C2676466

Subsets

DO_rare_slim

Parent Relationships

is_a pontocerebellar hypoplasia type 2

is_a autosomal recessive disease

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