OBO ID: DOID:0112329
Term Name: pontocerebellar hypoplasia type 2F Search Ontology:
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 pontocerebellar hypoplasia type 2F PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TSEN15 Pontocerebellar hypoplasia, type 2F 617026
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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