Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex m...
Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
Connect with organizations supporting the Joubert syndrome and related disorders community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
1 peer-reviewed source from PubMed
Common questions about Joubert syndrome and related disorders
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.