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Metadata
ID DOID:0060279
Name pontocerebellar hypoplasia type 10
Definition A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene.
https://pubmed.ncbi.nlm.nih.gov/24766809/, https://pubmed.ncbi.nlm.nih.gov/24766810/
Xrefs

MIM:615803

ORDO:411493

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DO_rare_slim

Parent Relationships

is_a pontocerebellar hypoplasia

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