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Results 1 - 8 of 8 for Intellectual "disability," autosomal recessive 57
  1. CLPB deficiency 
    ... mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  2. CLPB gene 
    ... mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  3. GLUT1 deficiency syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  4. Andermann syndrome 
    ... gaze palsy).Individuals with Andermann syndrome usually have intellectual disability, which may be mild to severe, and some ... syndrome. SLC12A6 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
  5. Glutaric acidemia type I 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  6. Hereditary folate malabsorption 
    ... may develop neurological problems such as developmental delays, intellectual disabilities, seizures, and difficulty coordinating movements (ataxia). Abnormal deposits ...
    https://medlineplus.gov/.../hereditary-folate-malabsorption - Genetics
  7. Beta-mannosidosis 
    ... mannosidosis. MANBA This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/genetics/condition/beta-mannosidosis - Genetics
  8. GJC2 gene 
    ... GJC2 LYMPHATIC MALFORMATION 3; LMPHM3 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 NCBI Gene ClinVar Gotoh L, Inoue K, ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics