FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pontocerebellar hypoplasia type 1F ID (Ontology) DOID:0112331 (Human Disease)
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.
Also Known As "PCH1F"
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 Genes
 pontocerebellar hypoplasia type 1F       1
 for disease ribbon | pontocerebellar hypoplasia type 1F       1
 model of | pontocerebellar hypoplasia type 1F       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________
pontocerebellar hypoplasia             |
 |__pontocerebellar hypoplasia type 1__|
                                       pontocerebellar hypoplasia type 1F  1 rec.
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Is a autosomal recessive disease
pontocerebellar hypoplasia type 1
Part of
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Synonyms
  • "PCH1F" EXACT OMO:0003012
Secondary IDs
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MIM:619304