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Intellectual "disability," autosomal dominant 41
- ... of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, ...
- ... the structures that form the eye (coloboma), and intellectual disabilities. The condition is found primarily in the First ... B, Leppert M, Fink JK. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J ...
- ... people with nonsyndromic holoprosencephaly have developmental delay and intellectual disability. Affected individuals also frequently have a malfunctioning pituitary ...
- ... 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 ...
- ... TAND). These disorders include hyperactivity, aggression, psychiatric conditions, intellectual disability, and problems with communication and social interaction (autism ...
- ... individuals have some level of developmental delay and intellectual disability. Their cognitive functioning typically declines over time. Alternating ...
- ... growth of the brain, causing delayed development and intellectual disability.A skin abnormality called cutis gyrata is also ... unknown. FGFR2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... or ADAR gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... syndrome with multiple lentigines is inherited in an autosomal dominant pattern, which means one copy of the altered ...
