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 1 - 10 of 11 for Intellectual "disability," autosomal recessive 3
  1. PGAP2 gene 
    ... PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/gene/pgap2 - Genetics
  2. ALDH18A1 gene 
    ... of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen over time. Autosomal recessive cutis laxa tends to be more severe than ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  3. PYCR1 gene 
    ... usual. Some affected individuals also have delayed development, intellectual ... called autosomal recessive cutis laxa type 3B (ARCL3B, which is also ...
    https://medlineplus.gov/genetics/gene/pycr1 - Genetics
  4. 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
  5. GJC2 gene 
    ... GAP JUNCTION PROTEIN, GAMMA-2; GJC2 LYMPHATIC MALFORMATION 3; LMPHM3 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 NCBI Gene ClinVar Gotoh L, Inoue K, ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  6. CLPB gene 
    ... H, Katsanis N, Wevers RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  7. GCH1 gene 
    ... GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and ... J Inherit Metab Dis. 2009 Jun;32(3):333-42. doi: 10.1007/s10545-009-1067- ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  8. POLR3A gene 
    ... mutations. Arch Neurol. 2012 Jul;69(7):920-3. doi: 10.1001/archneurol.2011.1963. Citation on ... hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  9. POLR3B gene 
    ... hypogonadotropic hypogonadism. J Med Genet. 2013 Mar;50(3):194-7. doi: ... hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  10. TMCO1 gene 
    ... facio-thoracic dysplasia, which is characterized by severe intellectual disability, distinctive facial features, and bone abnormalities that primarily ...
    https://medlineplus.gov/genetics/gene/tmco1 - Genetics
previous · 1 · 2 · next