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Results 1 - 10 of 16 for Intellectual "disability," autosomal recessive 45
  1. ATP6V0A2 gene 
    ... variants cause a form of the disorder called autosomal recessive cutis laxa type 2A ... disability, seizures, or problems with movement that can worsen ...
    https://medlineplus.gov/genetics/gene/atp6v0a2 - Genetics
  2. Trichothiodystrophy 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry ... hair-intellectual impairment-decreased fertility-short stature syndrome IBIDS PIBIDS ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
  3. POMT1 gene 
    ... Biol Chem. 2006 Jul 14;281(28):19339-45. doi: 10.1074/jbc.M601091200. Epub 2006 May 12. Citation on PubMed Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental ...
    https://medlineplus.gov/genetics/gene/pomt1 - Genetics
  4. Peters plus syndrome 
    ... features. B3GLCT 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/genetics/condition/peters-plus-syndrome - Genetics
  5. Septo-optic dysplasia 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
  6. 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
  7. Tyrosinemia 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/tyrosinemia - Genetics
  8. RAB18 deficiency 
    ... RAB3GAP2 TBC1D20 RAB18 deficiency 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/genetics/condition/rab18-deficiency - Genetics
  9. Galactosialidosis 
    ... lysosomes. CTSA 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/genetics/condition/galactosialidosis - Genetics
  10. Glutathione synthetase deficiency 
    ... 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 ...
    https://medlineplus.gov/.../glutathione-synthetase-deficiency - Genetics
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