Results 1 -
10
of
14
for
Intellectual "disability," autosomal recessive 64
- ... these four neurotransmitters contribute to the developmental delays, intellectual disabilities, abnormal movements, and autonomic nervous system 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 ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... over time (progress). Most affected individuals have severe intellectual disability; muscle stiffness (spasticity); and a delay in developing ... down. RNASET2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- Birth Defects/Reference Desk ... Birth Defects ... Genetic Counseling/Reference Desk ... Genetic Counseling ... Genetic Disorders/Reference Desk ... Genetic Disorders ... Genes and ...
- ... children with this condition have delayed development and intellectual disability, and some have an unusually small head size ( ... Methylmalonic acidemia with homocystinuria is inherited in an autosomal recessive pattern, which means both copies of the gene ...
(National Human Genome Research Institute) 