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Intellectual "disability," autosomal dominant 3
- ... CFEOM3 can include additional neurological problems, such as intellectual disability; difficulty with social skills; a smaller-than-normal ... inheritance. CFEOM1 and CFEOM3 are inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... in Ramon syndrome, which also involves short stature, intellectual disability, and overgrowth of the gums (gingival fibrosis). Additionally, ... alteration. SH3BP2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from mild to profound, weak muscle ... 16 16p12.2 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted ...
- ... identified physical or behavioral abnormalities.Developmental delay and intellectual disability can occur in people with a 16p11.2 ... duplication. chromosome 16 16p11.2 duplications have an autosomal dominant inheritance pattern, which means that a duplication in ...
- ... of people with hypochondroplasia have mild to moderate intellectual disability or learning problems, but other studies have produced ... been identified. FGFR3 Hypochondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... turning foot (clubfoot), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life- ... types of myotonic dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... eventually learn to walk. Most affected individuals have intellectual disability that ranges from mild to moderate, yet some ... syndrome. SMAD4 Myhre syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... condition develop normally. However, some affected individuals develop intellectual disability that becomes noticeable in early childhood. A small ... KCNQ2 KCNQ3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... CCHS, life expectancy and the extent of any intellectual disabilities depend on the severity of the disorder, timing ... CCHS. PHOX2B This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial ...
