pontocerebellar hypoplasia type 16

Summary
Synonym
  • PCH16
Definition
A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2.
Super Class
autosomal recessive disease pontocerebellar hypoplasia
External Links
Disease Ontology
DOID:0112333
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9562 MINPP1 multiple inositol-polyphosphate phosphatase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 25 in total
HPO ID HPO Term
HP:0002120 Cerebral cortical atrophy
HP:0000648 Optic atrophy
HP:0010862 Delayed fine motor development
HP:0000448 Prominent nose
HP:0002650 Scoliosis
HP:0002015 Dysphagia
HP:0000010 Recurrent urinary tract infections
HP:0002509 Limb hypertonia
HP:0001321 Cerebellar hypoplasia
HP:0003623 Neonatal onset
Displaying 1 entry
Gene ID Gene Symbol Description
9562 MINPP1 multiple inositol-polyphosphate phosphatase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024