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Results 1 - 10 of 26 for Intellectual "disability," autosomal recessive 46
  1. ASPM gene 
    ... ASPM gene are the most common cause of autosomal recessive primary microcephaly (often ... disability, and delayed development. More than 80 mutations in ...
    https://medlineplus.gov/genetics/gene/aspm - Genetics
  2. 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
  3. 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
  4. 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
  5. 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
  6. GJC2 gene 
    ... system and how mutations cause this condition. connexin-46.6 connexin-47 CX46.6 Cx47 gap junction ... NCBI Gene ClinVar Gotoh L, Inoue K, ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  7. CLPB gene 
    ... Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive ... doi: 10.2174/138920309789351930. Citation on PubMed Wortmann ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  8. Chromosome 1 
    ... The signs and symptoms of this disorder include intellectual disabilities, distinctive facial features, and structural abnormalities in several ... 1 microdeletion. Related features can include delayed development, intellectual ... abnormalities, and neurological and psychiatric problems; however, ...
    https://medlineplus.gov/genetics/chromosome/1 - Genetics
  9. 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
  10. 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
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