Search Ontology:
Human Disease

pontocerebellar hypoplasia type 2F

Term ID
DOID:0112329
Synonyms
  • PCH2F
Definition
A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. https://pubmed.ncbi.nlm.nih.gov/27392077/
References
Ontology
Human Disease   ( DOID:0112329 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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.