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Intellectual disability, autosomal dominant 20

Synonyms
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE

Summary

Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (NEDHSIL) is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities. Almost all affected individuals demonstrate repetitive stereotypic hand movements that can be categorized as hyperkinetic and resembling those of Rett syndrome (RTT; 312750). About 80% of patients develop various types of seizures that may be refractory to treatment. Additional features may include dysmorphic facial features, particularly dysplastic ears, poor eye contact, episodic hyperventilation, tendency to infection, and abnormalities on brain imaging, such as enlarged ventricles, thin corpus callosum, and delayed myelination (summary by Vrecar et al., 2017, Paciorkowski et al., 2013). [from OMIM]

Available tests

65 tests are in the database for this condition.

Clinical tests (65 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C5DELq14.3, DEL5q14.3, NEDHSIL, MEF2C
    Summary: myocyte enhancer factor 2C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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