OBO ID: DOID:0060269 |
Term Name: | pontocerebellar hypoplasia type 2C | Search Ontology: | |
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Definition: | A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene. https://www.omim.org/entry/612390 | ||
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Ontology: | Human Disease ( DOID:0060269 ) |
OTHER pontocerebellar hypoplasia type 2C PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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