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GTR Home > Conditions/Phenotypes > Intellectual disability-hypotonia-spasticity-sleep disorder syndrome

Intellectual disability-hypotonia-spasticity-sleep disorder syndrome

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 37
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (<i>ANK3</i> gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported. [from ORDO]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANKYRIN-G, MRT37, ANK3
    Summary: ankyrin 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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