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
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