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GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia, type 16

Pontocerebellar hypoplasia, type 16

Synonyms
Pontocerebellar hypoplasia, type 16

Summary

Pontocerebellar hypoplasia type 16 (PCH16) is an autosomal recessive severe neurodevelopmental disorder characterized by hypotonia and severe global developmental delay apparent from early infancy. Although the severity of the disorder is variable, most affected individuals achieve only a few, if any, developmental milestones. Most are unable to walk or speak, have eye abnormalities with poor visual contact, and develop early-onset epilepsy. Other features may include stereotypic movements, spasticity, and progressive microcephaly. Brain imaging shows pontocerebellar hypoplasia, often with thin corpus callosum, atrophy of the thalamus and basal ganglia, enlarged ventricles, and white matter abnormalities (summary by Ucuncu et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HIPER1, MINPP2, MIPP, PCH16, MINPP1
    Summary: multiple inositol-polyphosphate phosphatase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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