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Results 1 - 10 of 59 for Intellectual "disability," autosomal recessive 18
  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. Aromatic l-amino acid decarboxylase deficiency 
    ... these four neurotransmitters contribute to the developmental delays, intellectual disabilities, abnormal movements, and autonomic nervous system 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
  4. 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
  5. ATP6V0A2 gene 
    ... variants cause a form of the disorder called autosomal recessive cutis laxa type 2A ... disability, seizures, or problems with movement that can worsen ...
    https://medlineplus.gov/genetics/gene/atp6v0a2 - Genetics
  6. VLDLR gene 
    ... of the brain are also affected, resulting in intellectual disability and the other major features of this condition. More About This Health Condition ... A, Parboosingh JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J ...
    https://medlineplus.gov/genetics/gene/vldlr - Genetics
  7. Limb-girdle muscular dystrophy 
    ... TYPE C, 14; MDDGC14 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18; LGMDR18 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, ... TYPE C, 7; MDDGC7 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21; LGMDR21 MUSCULAR ... considerations in limb-girdle dystrophies. Expert Rev Neurother. 2018 Sep;18(9):693-703. doi: 10.1080/14737175.2018. ...
    https://medlineplus.gov/.../condition/limb-girdle-muscular-dystrophy - Genetics
  8. Charcot-Marie-Tooth disease 
    ... MOTOR AND SENSORY, WITH EXCESSIVE MYELIN FOLDING COMPLEX, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED FIBERS CHARCOT- ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  9. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... eye (hypermyelination of the retina), urinary tract problems, intellectual ... ages of 12 months and 18 months, as toddlers are learning to walk. These ...
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  10. VLDLR-associated cerebellar hypoplasia 
    ... Rare Disorders (NORD) ClinicalTrials.gov ... JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J ...
    https://medlineplus.gov/.../vldlr-associated-cerebellar-hypoplasia - Genetics
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