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 13 ID (Ontology) DOID:0112332 (Human Disease)
Definition A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1.
Also Known As "PCH13"
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 Genes
 pontocerebellar hypoplasia type 13       1
 for disease ribbon | pontocerebellar hypoplasia type 13       1
 model of | pontocerebellar hypoplasia type 13       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
neurodegenerative disease        |
 |__pontocerebellar hypoplasia___|
                                 pontocerebellar hypoplasia type 13  1 rec.
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Is a autosomal recessive disease
pontocerebellar hypoplasia
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Synonyms
  • "PCH13" EXACT OMO:0003012
Secondary IDs
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MIM:618606