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Intellectual "disability," autosomal dominant 30
- ... 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 ...
- ... individuals have some level of developmental delay and intellectual disability. Their cognitive functioning typically declines over time. Alternating ...
- ... syndrome range from normal to mild or moderate intellectual disability.Individuals with Apert syndrome have syndactyly of the ... feet. FGFR2 Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... typically associated with Gorlin syndrome, including delayed development, intellectual disability, overgrowth of the body (macrosomia), and other physical ...
- ... microduplication have delayed development (particularly speech delay) and intellectual disability or learning difficulties. Although most affected individuals have ...
- ... 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 ...
- ... Dravet syndrome have difficulty coordinating movements (ataxia) and intellectual disability.Some people with GEFS+ have seizure disorders of ... SCN1B SCN2A STX1B GEFS+ is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 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 ...
- ... 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 ...
- ... affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability. This condition is rare; only a few affected ... COL2A1 This condition is probably inherited in an autosomal dominant pattern, which means one copy of the altered ...
