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Results 1 - 10 of 175 for Mental "retardation," autosomal recessive 1
  1. VLDLR-associated cerebellar hypoplasia 
    ... CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1 ... recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J Child Neurol. 2009 Oct;24( ...
    https://medlineplus.gov/.../vldlr-associated-cerebellar-hypoplasia - Genetics
  2. 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
  3. Mabry syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the ... syndrome 1 Genetic Testing Registry: Hyperphosphatasia with intellectual disability syndrome ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
  4. Hennekam syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the ... Hennekam lymphangiectasia-lymphedema syndrome 2 ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  5. POMT1 gene 
    ... and functional association of human protein O-mannosyltransferases 1 and 2. J ... mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused ...
    https://medlineplus.gov/genetics/gene/pomt1 - Genetics
  6. RAB18 deficiency 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they ... MARTSOLF SYNDROME 1; MARTS1 WARBURG MICRO SYNDROME 1; WARBM1 WARBURG MICRO ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
  7. Limb-girdle muscular dystrophy 
    ... AUTOSOMAL RECESSIVE 6; LGMDR6 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL ...
    https://medlineplus.gov/.../condition/limb-girdle-muscular-dystrophy - Genetics
  8. Intestinal pseudo-obstruction 
    ... Pseudoobstructive syndrome Genetic Testing Registry: Visceral neuropathy, familial, 1, autosomal recessive Genetic Testing Registry: Visceral neuropathy, familial, 3, autosomal ...
    https://medlineplus.gov/.../condition/intestinal-pseudo-obstruction - Genetics
  9. Autosomal recessive primary microcephaly 
    ... recessive microcephaly True microcephaly Genetic Testing Registry: Microcephaly 1, primary, autosomal recessive Genetic Testing Registry: Microcephaly 2, primary, autosomal recessive, ...
    https://medlineplus.gov/.../autosomal-recessive-primary-microcephaly - Genetics
  10. PGAP2 gene 
    ... PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/gene/pgap2 - Genetics
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