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Intellectual "disability," autosomal recessive 45
- ... 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 ...
- ... disorder. The parents of an individual with an autosomal recessive condition each carry one ... Brittle hair-intellectual impairment-decreased fertility-short stature syndrome IBIDS PIBIDS ...
- ... the mouth (cleft palate), distinctive facial features, and intellectual disability.The eye problems in Peters plus syndrome occur ... Peters plus syndrome. Most affected individuals also have intellectual disability that can range from mild to severe, although ...
- ... seen in some individuals with this type include intellectual disabilities, hearing loss, and a cherry-red spot. Children ... coordinating movements (ataxia), muscle twitches (myoclonus), seizures, and intellectual disabilities that worsen over time. People with this form ...
- ... judging distance or scale (dysmetria). Some have mild intellectual disability. Individuals with CCFDN have short stature, are typically ... CCFDN. CTDP1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... thrive). Long-term complications can include feeding problems, intellectual disabilities, movement problems, chronic kidney disease, and inflammation of ...
- ... in their family.CFEOM2 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 ...
- ... HPD TAT This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
- ... are affected, abnormal brain development can lead to intellectual disability and other neurological problems.The third major feature ... families. Most familial cases appear to have an autosomal recessive pattern of inheritance, which means that both copies ...
- ... of physical reactions, movements, and speech (psychomotor retardation); intellectual disability; and a loss of coordination (ataxia). Some people ... deficiency. GSS This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
