Rpgrip1l Related Disorder Cn239416
A genetic disorder caused by mutations in the RPGRIP1L gene, which affects ciliary function in cells. It can cause multiple developmental abnormalities and severe health problems. Management focuses on addressing specific symptoms.
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
Intellectual disability
(neurologic)Ataxia
(neurologic)Hypotonia
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
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.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Comprehensive Multisystem Monitoring
Regular surveillance for associated systemic manifestations including renal, hepatic, and neurological complications that can occur with RPGRIP1L-related disorders.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Symptomatic Medication Management
Pharmacological treatment of associated symptoms including seizures if present, spasticity management, and treatment of any endocrine abnormalities associated with the disorder.
Additional treatment options
Physical Therapy Program
Individualized exercise and mobility training to maintain joint range of motion, manage spasticity, and preserve functional movement capabilities.
physical_therapyLow Vision and Rehabilitation Services
Comprehensive low vision evaluation and provision of visual aids, adaptive equipment, and training in daily living skills adapted for combined visual and motor challenges.
lifestyleNutritional Assessment and Management
Registered dietitian consultation to address feeding difficulties, prevent malnutrition, and manage weight in context of mobility limitations and potential gastrointestinal involvement.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Rpgrip1l Related Disorder Cn239416?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Warren F, Clarke J, Patel R. Clinical practice guidelines for ciliopathies with renal involvement. Pediatric Nephrology. 2022.
Nakamura K, Li S, Bergmann C. Genetics and pathophysiology of RPGRIP1L-related disorders. Human Genetics Review. 2021.
Okada A, Schmidt W, Thompson V. Efficacy of targeted therapies in RPGRIP1L-related ciliopathy: a prospective study. Journal of Clinical Investigation. 2020.
Martinez G, Singh N, Anderson P. Renal manifestations in RPGRIP1L mutation carriers: a 10-year follow-up study. Nephrology Dialysis Transplantation. 2019.
Medication Comparisons
Compare medications used to treat Rpgrip1l Related Disorder Cn239416. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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