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Results 1 - 10 of 21 for Intellectual "disability," autosomal recessive 46
  1. Prolidase deficiency 
    ... may also contribute to the skin problems. The intellectual disability that occurs in prolidase deficiency ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/prolidase-deficiency - Genetics
  2. Hennekam syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the ... Genetic Testing Registry: Hennekam lymphangiectasia-lymphedema syndrome ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  3. Autosomal recessive congenital methemoglobinemia 
    ... body (microcephaly). People with type II have severe intellectual ... autosomal recessive congenital methemoglobinemia type I have a normal life ...
    https://medlineplus.gov/...al-recessive-congenital-methemoglobinemia - Genetics
  4. Charcot-Marie-Tooth disease 
    ... 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- ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  5. Glutamate formiminotransferase deficiency 
    ... a molecule called formiminoglutamate (FIGLU) to more severe intellectual disabilities and ... has an estimated incidence of between 1 in 46,000 people and 1 in 60,000 people, ...
    https://medlineplus.gov/...glutamate-formiminotransferase-deficiency - Genetics
  6. Mitochondrial complex I deficiency 
    ... as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements (ataxia), or involuntary movements (dystonia). ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  7. Galactosemia 
    ... lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems ... and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems. Classic galactosemia occurs ...
    https://medlineplus.gov/genetics/condition/galactosemia - Genetics
  8. Aarskog-Scott syndrome 
    ... and behavior problems, and in rare cases, severe intellectual disability has been reported. Aarskog-Scott syndrome is believed ... syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although the genetic cause ...
    https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome - Genetics
  9. Congenital fibrosis of the extraocular muscles 
    ... CFEOM3 can include additional neurological problems, such as intellectual disability; difficulty with social skills; a smaller-than-normal ... in their family.CFEOM2 is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...nital-fibrosis-of-the-extraocular-muscles - Genetics
  10. Pol III-related leukodystrophy 
    ... POLR3A POLR3B 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 ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
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