Search Ontology:
Human Disease

pontocerebellar hypoplasia type 1D

Term ID
DOID:0112323
Synonyms
  • PCH1D
Definition
A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. (2)
References
Ontology
Human Disease   ( DOID:0112323 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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