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 46 for Intellectual "disability," autosomal recessive 29
  1. Mabry syndrome 
    ... PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
  2. ALDH18A1 gene 
    ... of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen over time. Autosomal recessive cutis laxa tends to be more severe than ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  3. DOORS syndrome 
    ... not show signs and symptoms of the condition. ... Deafness-onychoosteodystrophy-intellectual disability syndrome Digitorenocerebral syndrome ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  4. Osteopetrosis 
    ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a ... 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 ...
    https://medlineplus.gov/genetics/condition/osteopetrosis - Genetics
  5. Tetrahydrobiopterin deficiency 
    ... disrupts normal brain function. These abnormalities underlie the intellectual disability and other characteristic features of the condition. GCH1 PCBD1 PTS QDPR This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/tetrahydrobiopterin-deficiency - Genetics
  6. Cohen syndrome 
    ... speculate that problems with neuron development underlie microcephaly, intellectual disability, and retinal dystrophy and ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/cohen-syndrome - Genetics
  7. Kaufman oculocerebrofacial syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but ... Genetic ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  8. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  9. Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)  
    Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Muscular Dystrophy Association
    https://www.mda.org/disease/limb-girdle-muscular-dystrophy - External Health Links
  10. Neuronal ceroid lipofuscinoses (NCL) 
    ... and recycle proteins. Lipofuscinoses are inherited as autosomal recessive traits. This means each parent passes on a nonworking copy of the gene for the child to develop the condition. Only one adult subtype of NCL is inherited as autosomal dominant trait.
    https://medlineplus.gov/ency/article/001613.htm - Medical Encyclopedia
previous · 1 · 2 · 3 · 4 · 5 · next