OBO ID: DOID:0060267
Term Name: pontocerebellar hypoplasia type 2A Search Ontology:
Synonyms:
Definition: A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. https://www.omim.org/entry/277470
References:
Ontology: Human Disease   (DOID:0060267)
OTHER pontocerebellar hypoplasia type 2A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TSEN54 Pontocerebellar hypoplasia type 2A 277470
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None