Variants
Sign InSign Up

Joubert syndrome 7

Your Results

Sign In

Description

Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.

GeneReviews

  • Mode of Inheritance

  • Heterogeneous
  • Autosomal recessive inheritance

VARIANTS

153

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    611560

  • Orphanet
  • HPO
  • Medgen

    C1969053

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.