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Intellectual "disability," autosomal recessive 60
- ... and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems. Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. Galactosemia type II and type III ...
- ... cases can be life-threatening and involve profound intellectual disability and major physical abnormalities. Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 60,000 newborns. This condition is most common in ...
- ... for serious complications such as breathing difficulties, seizures, ... same family. About 60 percent of infants with this condition experience a ...
- ... the mouth (cleft palate), distinctive facial features, and intellectual disability.The eye problems in Peters plus syndrome occur ... Peters plus syndrome. Most affected individuals also have intellectual disability that can range from mild to severe, although ...
- ... familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. Eur J Paediatr Neurol. 2016 Jan;20(1): ...
- ... syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although the genetic cause ... cell is sufficient to cause the disorder. In autosomal recessive inheritance, both copies of the gene in each ...
- ... HPD TAT This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
- ... constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and ... family. When inherited, the condition usually has an autosomal recessive inheritance pattern, which means both copies of the ...
- ... apraxia). Most affected individuals have delayed development and intellectual disability, which can range from mild to severe. Distinctive ... TMEM67 TTC21B ZNF423 Joubert syndrome typically has an autosomal recessive pattern of inheritance, which means both copies of ...
- ... area of the brain called the basal ganglia. Intellectual disability has been reported in some affected individuals.The ... cells. PSMB8 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
