GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia, type 10

Summary

Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy. [from ORDO]

Available tests

13 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: HEAB, hClp1, CLP1
    Summary: cleavage factor polyribonucleotide kinase subunit 1

Clinical features

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