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 )
Relationships
is a type of:
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
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.