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Intellectual "disability," autosomal recessive 50
- ... for too long, they can cause coma and intellectual disability.The signs and symptoms of lysinuric ... is estimated to occur in 1 in 50,000 newborns in Finland. This condition has also ...
- ... disorder. The parents of an individual with an autosomal recessive condition each carry one ... Brittle hair-intellectual impairment-decreased fertility-short stature syndrome IBIDS PIBIDS ...
- ... called rhabdomyosarcoma. People with Nijmegen breakage syndrome are 50 times more ... disability.Most affected woman have premature ovarian failure and ...
- ... thrive). Long-term complications can include feeding problems, intellectual disabilities, ... Variants (also called ...
- ... in most cases die before birth.In about 50 percent of cases of X-linked ... in an autosomal recessive pattern, which means both copies of the gene ...
- ... may include additional signs and symptoms such as intellectual disabilities, problems with coordination and balance (ataxia), and damage ... syndrome. SPART This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult ... a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 ...
- ... People with Pol III-related leukodystrophy usually have intellectual disability ranging from mild to severe, which gradually worsens ... normal intelligence in early childhood but develop mild intellectual disability during the course of the disease.Difficulty coordinating ...
- ... for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.The severity ... form of congenital hyperinsulinism is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... are affected, abnormal brain development can lead to intellectual disability and other neurological problems.The third major feature ... families. Most familial cases appear to have an autosomal recessive pattern of inheritance, which means that both copies ...