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Intellectual disability myopathy syndrome
- ... cataracts), hearing loss, short stature, progressive muscle weakness (myopathy), and intellectual disabilities. Some people with Chanarin-Dorfman syndrome develop liver failure. The signs and symptoms of ...
- ... although some affected people have developmental delay or intellectual ... muscle weakness (myopathy) and seizures are possible. People with any of ...
- ... early childhood. Affected individuals also have muscle weakness (myopathy) ... disability. They also have skeletal abnormalities including short stature ...
- ... Danon disease is called the Wolff-Parkinson-White syndrome pattern. Skeletal ... mild intellectual disabilities, but this is much less common in affected ...
- ... facial features and brain abnormalities that result in intellectual disability and psychological problems.Premature aging syndrome, Penttinen type is characterized by a lack of ...
- ... limb-girdle muscular dystrophy; however, developmental delay and intellectual disability ... overlap with those of other muscle disorders. Prevalence estimates range from 1 in 14,500 ...
- ... turning foot (clubfoot), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life- ...
- ... in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections.When ... intestinal pseudo-obstruction CIIP CIPO Congenital short bowel syndrome Enteric ... Familial visceral neuropathy IPO Paralytic ileus Pseudo-obstruction ...
- ... with movement, poor coordination, seizures, hearing loss, learning disabilities, and loss of intellectual function (dementia). A heart condition called cardiomyopathy, which ...