This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
DEAF1-related disorders are neurologic diseases that mainly present with intellectual disability, speech impairment and motor developmental delay. Additional features that have being described include seizures, brain malformations, behavioral problems, autism, stomach and/or intestinal problems, and skeletal problems (flat foot or hip dislocation). Some people with DEAF1-related disorders may also have some features that resemble another disease known as Smith-Magenis syndrome, such as intellectual disability, dysmorphic features, and sleep disturbances.. DEAF1-related disorders are caused by changes (known as pathogenic variants, or mutations) in the DEAF1 gene which activates or represses several other genes that are important for brain cell (neuron) development. There are two types of DEAF-1 disorders that have been described: an autosomal recessive DEAF-1 disorder (known as intellectual disability-epilepsy-extrapyramidal syndrome, or dyskinesia, seizures, and intellectual developmental disorder) and an autosomal dominant DEAF-1 disorder known as autosomal dominant intellectual disability 24. Treatment is directed at the specific symptoms present.
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