Search Ontology:
Human Disease
pontocerebellar hypoplasia type 3
- Term ID
- DOID:0060272
- Synonyms
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- Definition
- A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene. https://www.omim.org/entry/608027
- References
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- GARD:10708
- MESH:C548072
- OMIM:608027
- ORDO:97249
- SNOMEDCT_US_2023_03_01:718609003
- UMLS_CUI:C1842687
- Ontology
- Human Disease ( DOID:0060272 )
- is a type of
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