... FRAXE syndrome Genetic Testing Registry: FRAXE FRAXE intellectual disability National Organization for Rare Disorders (NORD) INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109; XLID109 PubMed Gecz J, Gedeon AK, Sutherland ...

The AFF2 gene provides instructions for making a protein that is found in the nucleus of cells but whose function is not well understood. Some studies suggest ...

... gene have also been found in individuals with X-linked intellectual disability. These individuals have delayed development and other neurological problems but do not show other features of methylmalonic acidemia with ... features of X-linked disability, but does not severely impact vitamin B12 ...

... in the HSD17B10 gene causes a form of X-linked intellectual disability called MRXS10. This disorder is characterized by intellectual ...

... of 1 and 2 and results in severe intellectual disability and loss of communication skills and motor skills ... disease may have developmental delay, learning problems, or intellectual disability, but they do not experience developmental regression. Some ...

... and behavior problems, and in rare cases, severe intellectual disability has been reported. Aarskog-Scott syndrome is believed ...

... children with this condition have delayed development and intellectual disability, and some have an unusually small head size ( ... MR, Rosenblatt DS, Venditti CP, Shaikh TH. An X-linked cobalamin disorder caused ... HCFC1. Am J Hum Genet. 2013 Sep 5;93(3):506-14. doi: 10.1016/j.ajhg. ...

... sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and ...

... function. These additional signs and symptoms include mild intellectual disability, weak muscle tone (hypotonia), and clouding of the ...