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Intellectual "disability," autosomal recessive 64
- ... of these neurotransmitters contribute to the developmental delay, intellectual disability, abnormal movements, and autonomic dysfunction seen in people with AADC deficiency. DDC This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Muscular Dystrophy Association
- ... 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 ...
- Birth Defects/Reference Desk ... Birth Defects ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy ... Genetic Disorders/Reference Desk ... Genetic Disorders ... Genetic ...
- ... show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills ... patterns. This condition is usually inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... for too long, they can cause coma and intellectual disability.The signs and symptoms of lysinuric protein intolerance ... unclear. SLC7A7 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... development, delayed development overall, problems with movement, and intellectual disability. The brain abnormalities are usually present at birth, ... CHMP1A CLP1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... most often in people with dihydropyrimidinase deficiency are intellectual disability, seizures, and weak muscle tone (hypotonia). An abnormally ... disorder. DPYS This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... the loss of previously acquired skills (developmental regression), intellectual disability that gradually gets worse, and behavioral problems. Individuals ...
- ... ganglia, which are regions that help control movement. Intellectual disability may also occur.The severity of glutaric acidemia ... I. GCDH This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
(National Human Genome Research Institute) 