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Metadata
ID DOID:0060270
Name pontocerebellar hypoplasia type 2D
Definition A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene.
https://www.omim.org/entry/613811
Xrefs

ICD10CM:Q04.3

OMIM:613811

ORDO:2524

Subsets

DO_rare_slim

Parent Relationships

is_a pontocerebellar hypoplasia

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