Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 31 - 40 of 142 for Intellectual "disability," autosomal recessive 6
  1. Frontonasal dysplasia 
    ... and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet. 2010 May 14;86(5):789-96. doi: 10.1016/j.ajhg.2010.04.002. Epub 2010 May 6. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/condition/frontonasal-dysplasia - Genetics
  2. Nijmegen breakage syndrome 
    ... Retrospective Analysis. J Clin Immunol. 2015 Aug;35(6):538-49. doi: 10.1007/s10875-015-0186-9. Epub 2015 Aug 14. Citation on PubMed
    https://medlineplus.gov/.../condition/nijmegen-breakage-syndrome - Genetics
  3. Cerebro-facio-thoracic dysplasia 
    ... Disorders (NORD) CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, ... B, Boduroglu K, Akarsu NA. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. Am J Med Genet A. 2014 ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  4. 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
  5. GJC2 gene 
    ... this condition. connexin-46.6 connexin-47 CX46.6 Cx47 gap junction alpha-12 protein gap junction gamma-2 ... NCBI Gene ClinVar Gotoh L, Inoue K, ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  6. Primary coenzyme Q10 deficiency 
    ... deficiency CoQ deficiency Primary CoQ10 deficiency Ubiquinone deficiency ... COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6 COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2 COENZYME ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  7. Sandhoff disease 
    ... appear normal until the age of 3 to 6 months, when their development slows ... and intellectual disability. An eye abnormality called a cherry-red spot, ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  8. Galactosialidosis 
    ... months of age; they typically live to around 6 months of age.The late ... intellectual disabilities, hearing loss, and a cherry-red spot. Children ...
    https://medlineplus.gov/genetics/condition/galactosialidosis - Genetics
  9. PGM3-congenital disorder of glycosylation 
    ... PGM3 deficiency. Curr Opin Pediatr. 2014 Dec;26(6):697-703. doi: ... recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to ...
    https://medlineplus.gov/...pgm3-congenital-disorder-of-glycosylation - Genetics
  10. Mucopolysaccharidoses From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Carbohydrate Metabolism Disorders/Specifics ... Carbohydrate Metabolism Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes ...
    https://www.ninds.nih.gov/.../disorders/mucopolysaccharidoses - External Health Links
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next