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Metadata
ID DOID:0060266
Name pontocerebellar hypoplasia type 1B
Definition A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.
https://www.omim.org/entry/614678
Xrefs

OMIM:614678

ORDO:2254

Subsets

DO_rare_slim

Parent Relationships

is_a pontocerebellar hypoplasia type 1

is_a autosomal recessive disease

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