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 - 8 of 8 for Joubert syndrome 1
Did you mean robert syndrome 1?
  1. Joubert syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov JOUBERT SYNDROME 1; JBTS1 JOUBERT SYNDROME 10; JBTS10 JOUBERT SYNDROME 2; JBTS2 JOUBERT ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. NPHP1 gene 
    ... signs and symptoms of Senior-Løken syndrome or Joubert syndrome. JBTS4 juvenile nephronophthisis 1 protein nephrocystin-1 nephronophthisis 1 (juvenile) NPH1 SLSN1 ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  3. CEP290 gene 
    ... frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  4. OFD1 gene 
    ... JBTS10 MGC117039 MGC117040 OFD1_HUMAN oral-facial-digital syndrome 1 SGBS2 Tests of OFD1 PubMed OFD1 CENTRIOLE AND CENTRIOLAR SATELLITE PROTEIN; OFD1 JOUBERT SYNDROME 10; JBTS10 NCBI Gene ClinVar Bisschoff IJ, ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  5. Nephronophthisis 
    ... at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis. Nephronophthisis is found in populations worldwide. It occurs in an estimated 1 in 50,000 newborns in Canada, 1 in ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  6. Polymicrogyria 
    ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... Andermann F. Familial perisylvian polymicrogyria: a new familial syndrome of ... 2000 Jul;48(1):39-48. Citation on PubMed Guerrini R, Barkovich ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  7. L1 syndrome 
    ... stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.HSAS ... is unknown; however, HSAS is estimated to affect 1 in 30,000 males. L1 syndrome is caused by mutations in the L1CAM gene. ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  8. Renal tubular dysgenesis 
    ... condition. Allanson Pantzar McLeod syndrome Primitive renal tubule syndrome ... JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Mutations in genes ...
    https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis - Genetics