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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with speech impairment and dysmorphic facies

Neurodevelopmental disorder with speech impairment and dysmorphic facies

Summary

Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) is characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition. Additional features include dysmorphic facies, distal limb anomalies, gastrointestinal problems or feeding difficulties, and hypotonia. The phenotypic features and severity of the disorder are variable (summary by Kummeling et al., 2021). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EPEDD, EPEO2, KMT2F, NEDSID, Set1, Set1A, SETD1A
    Summary: SET domain containing 1A, histone lysine methyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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