OBO ID: DOID:0060272 |
Term Name: | pontocerebellar hypoplasia type 3 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0060272 ) |
OTHER pontocerebellar hypoplasia type 3 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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