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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 ...
- ... movements (dystonia), hearing loss, muscle wasting (atrophy), and intellectual ... Approximately 60 people with SUCLA2-related mtDNA depletion syndrome have ...
- ... 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 ...
- ... 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 ...
- ... In addition, affected individuals have moderate to severe intellectual disability and distinctive physical features, including short stature; chubbiness; ...
- ... with tyrosinemia type II have some degree of intellectual disability.Tyrosinemia type III is the rarest of the ... types. The characteristic features of this type include intellectual disabilities, seizures, and periodic loss of balance and coordination ( ...
- ... 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 ...
- ... 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 ...
