GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia, type 7

Summary

A novel very rare form of pontocerebellar hypoplasia with unknown aetiology and poor prognosis reported in four patients. It has clinical characteristics in the neonatal period of hypotonia, no palpable gonads, micropenis and from infancy progressive microcephaly, apnoeic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. [from SNOMEDCT_US]

Available tests

10 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: PCH7, TOE-1, hCaf1z, TOE1
    Summary: target of EGR1, exonuclease

Clinical features

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