Search Ontology:
Human Disease

pontocerebellar hypoplasia type 1F

Term ID
DOID:0112331
Synonyms
  • PCH1F
Definition
A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. https://pubmed.ncbi.nlm.nih.gov/33463720/
References
Ontology
Human Disease   ( DOID:0112331 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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