... brachydactyly), recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development.In people with Nicolaides- ...

... and children with the condition typically have severe intellectual disability. Abnormal or involuntary movements, such as jerking movements ... development. Both disorders are characterized by impaired development, intellectual disability, and problems with communication and language. However, Rett ...

... Some affected individuals also have learning difficulties or intellectual disability.Thyroid problems are the next most common feature ... Although a shortage of thyroid hormones can cause intellectual disability and other neurological problems, it is unclear whether ...

... and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one ... mild symptoms of the disorder.Some cases of autosomal dominant or type X Charcot-Marie-Tooth disease result ...

... 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 ...

... 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 ...

... People with MPPH syndrome have delayed development and intellectual disability that ranges from mild to severe. About half ... mutations. AKT3 CCND2 PIK3R2 This condition is considered autosomal dominant, which means one copy of the altered gene ...