OBO ID: DOID:0060268
Term Name: pontocerebellar hypoplasia type 2B Search Ontology:
Synonyms:
Definition: A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene. https://www.omim.org/entry/612389
References:
Ontology: Human Disease   (DOID:0060268)
OTHER pontocerebellar hypoplasia type 2B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TSEN2 Pontocerebellar hypoplasia type 2B 612389
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None