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GTR Home > Conditions/Phenotypes > NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, ABSENT SPEECH AND AMBULATION, AND BRAIN ABNORMALITIES

NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, ABSENT SPEECH AND AMBULATION, AND BRAIN ABNORMALITIES

Summary

Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities (NEDFSAB) is a severe developmental disorder characterized by onset of these symptoms at birth or in early infancy. Affected individuals may have neonatal respiratory or feeding difficulties, poor growth, and optic atrophy; they essentially show no normal developmental skills. Some have infantile spasms with EEG abnormalities, including background slowing. Brain imaging shows cortical atrophy, thin corpus callosum, and hypomyelination (Ganesh et al., 2024). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: LINC01578, NEDFSAB, CHASERR
    Summary: CHD2 adjacent suppressive regulatory RNA

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