U.S. flag

An official website of the United States government

We are planning the future of MedGen. Fill out this survey or email us at medgen_help@ncbi.nlm.nih.gov to tell us how it can work better for you.

Joubert syndrome 5(JBTS5)

MedGen UID:
347545
Concept ID:
C1857780
Disease or Syndrome
Synonyms: CEP290-Related Joubert Syndrome; JBTS5
 
CEP290 (12q21.32)
 
Monarch Initiative: MONDO:0012432
OMIM®: 610188
Authors:

Clinical features

From HPO

Professional guidelines

PubMed

Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469

Recent clinical studies

Etiology

Sztriha L, Johansen JG
Am J Med Genet A 2005 Jun 1;135(2):134-41. doi: 10.1002/ajmg.a.30701. PMID: 15832356

Diagnosis

Zaki MS, Sattar S, Massoudi RA, Gleeson JG
Am J Med Genet A 2011 Dec;155A(12):3042-9. Epub 2011 Oct 14 doi: 10.1002/ajmg.a.34173. PMID: 22002901Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    External link. Please review our privacy policy.