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 41 for Joubert syndrome related disorders
Did you mean robert syndrome related disorders?
  1. CEP290 gene 
    ... frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul;81(1): ... E, Signorini S, Louie CM, Bellacchio E; International Joubert Syndrome Related Disorders Study Group; Bertini E, Dallapiccola B, Gleeson JG. ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  2. Joubert syndrome 
    ... disorders. Together, those disorders were referred to as Joubert syndrome and related disorders (JSRD). Now, however, any instances that involve the ... JBTS14 PubMed Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5: ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  3. Joubert Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Cerebellar Disorders/Specifics ... Cerebellar Disorders ... National Institute of Neurological Disorders and Stroke ... Joubert syndrome is a rare genetic condition ...
    https://www.ninds.nih.gov/.../disorders/joubert-syndrome - External Health Links
  4. Patient support and advocacy groups 
    ... Jain Foundation Jeffrey Modell Foundation Joshua Frase Foundation Joubert Syndrome and Related Disorders Foundation Kabuki Syndrome Foundation Kabuki Syndrome Network KBG ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  5. OFD1 gene 
    ... oral-facial-digital syndrome (described above), such as Joubert syndrome. This disorder is characterized by particular brain abnormalities, weak muscle ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  6. Oculomotor Apraxia (American Association for Pediatric Ophthalmology and Strabismus)  
    Eye Movement Disorders/Specifics ... Eye Movement Disorders ... American Association for Pediatric Ophthalmology and Strabismus ... GLOSSARY, TERMS, ACRONYMS, PHRASES, ...
    https://www.aapos.org/glossary/oculomotor-apraxia - External Health Links
  7. NPHP1 gene 
    ... nephronophthisis and breakdown of the retina (retinal degeneration). Joubert syndrome is a multisystem disorder that typically involves neurological problems and can include ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  8. L1 syndrome 
    ... hydrocephalus syndrome L1 syndrome ... Carles D, Devisme L, Dijoud F, Fabre B, Fernandez C, Gaillard D, Gonzales M, Jossic F, Joubert M, Laurent N, Leroy B, Loeuillet L, Loget ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  9. Nephronophthisis 
    ... at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  10. Inflammation From the National Institutes of Health (National Institute of Environmental Health Sciences)  
    Crohn's Disease/Statistics and Research ... Crohn's Disease ... Ulcerative Colitis/Statistics and Research ... Ulcerative Colitis ... Autoimmune Diseases/Statistics and Research
    https://www.niehs.nih.gov/health/topics/conditions/inflammation - External Health Links
previous · 1 · 2 · 3 · 4 · 5 · next