Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

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. Aminoacylase 1 deficiency 
    ... have movement problems, reduced muscle tone (hypotonia), mild intellectual disability, and seizures. However, some people with aminoacylase 1 ... deficiency. ACY1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency - Genetics
  6. 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
  7. MEGDEL syndrome 
    ... they already developed. Individuals with MEGDEL syndrome have intellectual disability and never learn to speak.People with MEGDEL ... dysfunction. SERAC1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  8. Mucolipidosis III alpha/beta 
    ... severity. GNPTAB 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/mucolipidosis-iii-alpha-beta - Genetics
  9. ALG1-congenital disorder of glycosylation 
    ... tissues. ALG1 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/...alg1-congenital-disorder-of-glycosylation - 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