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Intellectual "disability," "X-linked" 96
- ... 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 ( ...
- ... mutation has also been found to cause an X-linked retinal disorder in a large ... disability. The CACNA1F mutation associated with this condition alters ...
- ... abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts ...
- ... 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 ...