OBO ID: DOID:0060279
Term Name: pontocerebellar hypoplasia type 10 Search Ontology:
Synonyms:
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://www.omim.org/entry/615803
References:
Ontology: Human Disease   ( DOID:0060279 )
Relationships
is a type of:
OTHER pontocerebellar hypoplasia type 10 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLP1 Pontocerebellar hypoplasia, type 10 615803
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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