Search Ontology:
Human Disease
pontocerebellar hypoplasia type 10
- Term ID
- DOID:0060279
- Synonyms
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- 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
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- OMIM:615803
- ORDO:411493
- Ontology
- Human Disease ( DOID:0060279 )
- is a type of
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