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Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism

Summary

Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism (CDIDHH) is characterized by delayed motor development, ataxia, severe progressive scoliosis, moderate to severe intellectual disability, and delayed sexual development. Cerebellar hypoplasia has been observed in some patients (Whittaker et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CDIDHH, MU-MB-20.220, PCH17, PFM10, PRDM13
    Summary: PR/SET domain 13

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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