OBO ID: DOID:0060269
Term Name: pontocerebellar hypoplasia type 2C Search Ontology:
Synonyms:
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
References:
Ontology: Human Disease   (DOID:0060269)
OTHER pontocerebellar hypoplasia type 2C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TSEN34 ?Pontocerebellar hypoplasia type 2C 612390
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None