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Intellectual "disability," autosomal dominant 38
- ... particular, problems with brain development likely contribute to intellectual disability, delayed development, and other neurological problems in people with the condition. HNRNPK This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... copy of LHX1 is thought to contribute to intellectual disability, behavioral and psychiatric conditions, and ... This condition is inherited in an autosomal dominant pattern, which means one copy of the chromosomal ...
- ... in more than one copy, contribute to intellectual disability, delayed development, and the other signs ... 17q12 duplications have an autosomal dominant pattern of inheritance, which means one copy of ...
- ... death of these neurons lead to uncontrolled movements, intellectual decline, and the other characteristic features of DRPLA. ATN1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy Association
- ... syndrome Chromosome 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KDVS Koolen syndrome Microdeletion 17q21.31 syndrome ...
- ... condition. STXBP1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 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 ...
- ... addition to RB1, affected children usually also have intellectual disability, slow growth, and distinctive facial features (such as ... RB1 gene appear to be inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy ...
- ... with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe.Heart defects ... MAP2K2 Cardiofaciocutaneous syndrome is considered to be an autosomal dominant condition, which means one copy of an altered ...
