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Results 1 - 4 of 4 for Intellectual "disability," "X-linked" 96
  1. ... type BMRS, MKB type Ohdo syndrome, MKB type X-linked Ohdo syndrome Genetic Testing Registry: Blepharophimosis - intellectual disability syndrome, MKB type National Organization for Rare Disorders ( ...
  2. ... mutation has also been found to cause an X-linked retinal disorder in a large ... disability. The CACNA1F mutation associated with this condition alters ...
  3. ... abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts ...
  4. ... before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities ... those with HDAC8 gene variants may have significant intellectual disability.In about 15 percent of cases, the cause ...