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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal dominant 40

Intellectual disability, autosomal dominant 40

Synonyms
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES

Summary

Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features (NEDHILD) is a rare neurodevelopmental disorder associated with impaired intellectual development, speech and language impairment, microcephaly, seizures, hypotonia, ophthalmologic issues, constipation/gastroesophageal reflux, and behavioral problems, including autism and sleep disturbances (summary by Garrity et al., 2021). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C13orf8, CAMP, CHAMP, MRD40, NEDHILD, ZNF828, CHAMP1
    Summary: chromosome alignment maintaining phosphoprotein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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