|OBO ID: DOID:0112331|
|Term Name:||pontocerebellar hypoplasia type 1F||Search Ontology:|
|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/|
|Ontology:||Human Disease ( DOID:0112331 )|
|is a type of:||
OTHER pontocerebellar hypoplasia type 1F PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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