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Results 1 - 10 of 55 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. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. CLPB deficiency 
    ... 1007/s10545-015-9813-0. Epub 2015 Jan 18. Citation on PubMed Saunders ... disorder with cataract, neutropenia, epilepsy, and methylglutaconic ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  9. Trichothiodystrophy 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
  10. GLUT1 deficiency syndrome 
    ... but they may still have developmental delay and intellectual disability. ... and epilepsy (dystonia 18); and certain types of epilepsy. In rare cases, ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
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