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Results 1 - 10 of 10 for Intellectual "disability," autosomal recessive 47
  1. Ohdo syndrome, Maat-Kievit-Brunner type 
    ... X-linked Ohdo syndrome Genetic Testing Registry: ... HG, Maaswinkel-Mooij P. Two additional cases of the Ohdo blepharophimosis syndrome. Am J Med Genet. 1993 Nov 1;47(6):901-6. doi: 10.1002/ajmg.1320470618. ...
    https://medlineplus.gov/.../ohdo-syndrome-maat-kievit-brunner-type - Genetics
  2. GJC2 gene 
    ... mutations cause this condition. connexin-46.6 connexin-47 CX46.6 Cx47 gap junction alpha-12 protein gap ... NCBI Gene ClinVar Gotoh L, Inoue K, ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  3. ACAD9 deficiency 
    ... deficiency. ACAD9 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/acad9-deficiency - Genetics
  4. Galactosialidosis 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/galactosialidosis - Genetics
  5. Aicardi-Goutières syndrome 
    ... most people with Aicardi-Goutières syndrome have profound intellectual disability. They also have muscle stiffness (spasticity); involuntary tensing ... and SAMHD1 genes, it is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  6. Mucolipidosis III alpha/beta 
    ... half of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III alpha/ ... severity. GNPTAB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  7. ALG1-congenital disorder of glycosylation 
    ... body systems.Individuals with ALG1-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many ... tissues. ALG1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...alg1-congenital-disorder-of-glycosylation - Genetics
  8. MEGDEL syndrome 
    ... dysfunction. SERAC1 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/megdel-syndrome - Genetics
  9. Aminoacylase 1 deficiency 
    ... deficiency. ACY1 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/aminoacylase-1-deficiency - Genetics
  10. Mucopolysaccharidosis type I 
    ... cell. IDUA 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/mucopolysaccharidosis-type-i - Genetics