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 64 for Intellectual "disability," autosomal recessive 13
  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. 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
  3. 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
  4. Aromatic l-amino acid decarboxylase deficiency 
    ... of these neurotransmitters contribute to the developmental delay, intellectual disability, abnormal movements, and autonomic dysfunction seen in people with AADC deficiency. DDC This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  5. 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
  6. Woodhouse-Sakati syndrome 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically ... Genetic Testing Registry: Woodhouse-Sakati syndrome ...
    https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome - Genetics
  7. RAB18 deficiency 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically ... syndrome Micro syndrome National Organization for Rare ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
  8. Hennekam syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the ... Genetic Testing Registry: Hennekam lymphangiectasia-lymphedema syndrome ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  9. 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
  10. 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
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · next