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Results 1 - 10 of 54 for Intellectual "disability," autosomal recessive 18
  1. ... PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013 Apr 4;92( ...
  2. ... 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 ...
  3. ... 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 ...
  4. ... 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. ...
  5. ... 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- ...
  6. ... eye (hypermyelination of the retina), urinary tract problems, intellectual ... ages of 12 months and 18 months, as toddlers are learning to walk. These ...
  7. ... Rare Disorders (NORD) ClinicalTrials.gov ... JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J ...
  8. ... 1007/s10545-015-9813-0. Epub 2015 Jan 18. Citation on PubMed Saunders ... disorder with cataract, neutropenia, epilepsy, and methylglutaconic ...
  9. ... disorder. The parents of an individual with an autosomal recessive condition each carry one ... Brittle hair-intellectual impairment-decreased fertility-short stature syndrome IBIDS PIBIDS ...
  10. ... but they may still have developmental delay and intellectual disability. ... and epilepsy (dystonia 18); and certain types of epilepsy. In rare cases, ...
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