Results 21 -
30
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71
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Intellectual "disability," autosomal dominant 13
- ... B, Leppert M, Fink JK. Novel locus for autosomal dominant hereditary spastic ... Spastic Paraplegia 8. 2008 Aug 13 [updated 2020 May 21]. In: Adam MP, Feldman ...
- Genetic Disorders and Pregnancy (American College of Obstetricians and Gynecologists)American College of Obstetricians and Gynecologists ... Genetic Disorders/Women ... Genetic Disorders ... This patient FAQ presents information to help patients understand ...
- ... and vascular disease. Trends Cardiovasc Med. 2003 Jul;13(5):176-81. doi: ... of autosomal-dominant cutis laxa with report of five ELN mutations. ...
- ... characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition ... cause is often not identified in people with intellectual disability, so this condition is likely underdiagnosed. Koolen-de ...
- ... by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body. ... syndrome is also associated with delayed development and intellectual disability, which are often severe. Affected individuals may have ...
- ... large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features ... the relationship between these brain abnormalities and the intellectual disability associated with Weaver syndrome is unclear.Researchers suggest ...
- PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking. Expressive language skills (vocabulary and the production of speech) are generally more ...
- ... GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most affected individuals also have other neurological problems, ... but they may still have developmental delay and intellectual disability. Most have movement problems such as ataxia or ...
- ... development (particularly speech delay) and mild or moderate intellectual disability. They also have an increased risk of neurodevelopmental ... A. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. Am J Med Genet ...
- ... in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections.When ... by ACTG2 gene mutations is inherited in an autosomal dominant pattern, which means one copy of the altered ...
