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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities

Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities

Summary

Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB) is a syndromic disorder with multisystemic involvement. Affected individuals have severe global developmental delay with severely impaired intellectual development, poor or absent language, behavioral abnormalities, seizures, and sleep disturbances. Craniofacial dysmorphisms, while variable, include round face, prognathism, depressed nasal bridge, and cleft or high-arched palate. Brain imaging shows dysgenesis of the corpus callosum and progressive cerebellar atrophy. Additional features may include genitourinary tract anomalies, hearing loss, and mild distal skeletal defects (summary by Humbert et al., 2020). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ESA1, HTATIP, HTATIP1, NEDFASB, PLIP, TIP, TIP60, ZC2HC5, cPLA2, KAT5
    Summary: lysine acetyltransferase 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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