A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
Comprehensive, easy-to-understand information about this condition
How we create this content →Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Inheritance patterns describe how genetic conditions are passed from parents to children.
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
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.