This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Autosomal recessive intellectual disability 58 is a very rare genetic condition characterized by intellectual disability without identified malformations in other organs (non-syndromic) of the body. To date, there are only eight cases reported in the medical literature. Symptoms severity varied in the reported cases, with mild or severe intellectual disability. In one family with two affected brothers, one was not able to walk at age 9 due to progressive spasticity (stiffness or tightness of the muscles with too strong or persistent reflexes) and difficulty talking, and the other never walked or talked. Both brothers had behavioral problems, such as aggressiveness, impulsivity, and self-injury. It is caused by mutations in the ELP2 gene. In the reported cases inheritance seems to be autosomal recessive. There is no report of specific treatment.
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