Skip to content

Joubert Syndrome 7 C1969053

Published: July 22, 2026Updated: August 20, 2026

A genetic condition that affects the brain's structure, leading to developmental delays and movement difficulties. Treatment focuses on managing symptoms and providing supportive care.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

Key facts at a glance

ICD-10
G40.909
ICD-11
8A00.0
Body system
neurologic
Severity
severe
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Developmental delay

(neurologic)

Generalized symptoms

(neurologic)

Significant symptoms that substantially affect daily functioning.

Frequency: Common at all stages

Ataxia

(neurologic)

Renal cystic disease

(neurologic)

Polydactyly

(neurologic)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

Standard diagnostic workup

Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]

Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]

Medication Comparisons

Compare medications used to treat Joubert Syndrome 7 C1969053. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy