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Results 11 - 20 of 120 for Intellectual "disability," autosomal recessive 7
  1. Autosomal recessive congenital methemoglobinemia 
    ... body (microcephaly). People with type II have severe intellectual ... autosomal recessive congenital methemoglobinemia type I have a normal life ...
    https://medlineplus.gov/...al-recessive-congenital-methemoglobinemia - Genetics
  2. 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
  3. Trichothiodystrophy 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ... Genetic Testing Registry: Trichothiodystrophy 8, nonphotosensitive Genetic ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
  4. CLN8 disease 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they ... Finnish type National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
  5. Limb-girdle muscular dystrophy 
    ... Disorders (NORD) ClinicalTrials.gov MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6; ...
    https://medlineplus.gov/.../condition/limb-girdle-muscular-dystrophy - Genetics
  6. UNC80 deficiency 
    ... Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  7. UNC80 gene 
    ... Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/unc80 - Genetics
  8. Periventricular heterotopia 
    ... NODULAR HETEROTOPIA 1; PVNH1 PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE; ARPHM PERIVENTRICULAR NODULAR HETEROTOPIA 3; PVNH3 PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7 PubMed Broix L, Jagline H, Ivanova E, ...
    https://medlineplus.gov/.../condition/periventricular-heterotopia - Genetics
  9. 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
  10. Dilated cardiomyopathy with ataxia syndrome 
    ... D, Bernier F. Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein. Cardiol Young. 2007 Apr;17(2):215-7. doi: 10.1017/S1047951107000042. Epub 2007 Jan 23. ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
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