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Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

Summary

Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies (IDDHISD) is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features. Some affected individuals have seizures, and a few have involvement of other organ systems (Goodman et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IDDHISD, IPO3, KPNB2B, TRN2, TNPO2
    Summary: transportin 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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