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Results 21 - 30 of 142 for Intellectual "disability," autosomal recessive 6
  1. 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
  2. CLN3 disease 
    ... primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen ...
    https://medlineplus.gov/genetics/condition/cln3-disease - Genetics
  3. UNC80 deficiency 
    ... UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015-103352. ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  4. UNC80 gene 
    ... UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. J Med Genet. 2016 Jun;53(6):397-402. doi: 10.1136/jmedgenet-2015-103352. ...
    https://medlineplus.gov/genetics/gene/unc80 - Genetics
  5. DOCK6 gene 
    ... M. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Hum Mutat. 2015 Jun;36(6):593-8. doi: 10.1002/humu.22795. Epub ...
    https://medlineplus.gov/genetics/gene/dock6 - Genetics
  6. Ohdo syndrome, Maat-Kievit-Brunner type 
    ... Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/.../ohdo-syndrome-maat-kievit-brunner-type - Genetics
  7. Lissencephaly with cerebellar hypoplasia 
    ... Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep;26(1):93-6. doi: 10.1038/79246. Citation on PubMed Kumar ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  8. RELN gene 
    ... Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep;26(1):93-6. doi: 10.1038/79246. Citation on PubMed Lakatosova ...
    https://medlineplus.gov/genetics/gene/reln - Genetics
  9. 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
  10. Glucose phosphate isomerase deficiency 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Glucose-6-phosphate isomerase deficiency Glucosephosphate isomerase deficiency GPI deficiency ...
    https://medlineplus.gov/.../glucose-phosphate-isomerase-deficiency - Genetics
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