Results 1 -
10
of
32
for
Intellectual "disability," autosomal recessive 50
- ... other features of SPENCDI, including movement disorders and intellectual disability, is currently unknown. ACP5 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... not show signs and symptoms of the condition. ... Deafness-onychoosteodystrophy-intellectual disability syndrome Digitorenocerebral syndrome ...
- ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a ... 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 ...
- ... disrupts normal brain function. These abnormalities underlie the intellectual disability and other characteristic features of the condition. GCH1 PCBD1 PTS QDPR This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but ... Genetic ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically ... syndrome Micro syndrome National Organization for Rare ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the ... Genetic Testing Registry: Hennekam lymphangiectasia-lymphedema syndrome ...
- ... body (microcephaly). People with type II have severe intellectual ... autosomal recessive congenital methemoglobinemia type I have a normal life ...
- ... MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED FIBERS CHARCOT- ...
- ... with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia). GPI deficiency is a rare cause of hemolytic anemia; its prevalence is unknown. About 50 cases have been described in the medical literature. ...
