Hao Fountain Syndrome Due To Usp7 Mutation C5816734
A genetic neurodevelopmental condition with developmental delay, distinctive facial features, and sometimes seizures. Care focuses on symptom management and developmental therapies.
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.
Warning signs - seek immediate care
Seizures
Developmental delay
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Autism spectrum disorder
(neurologic)Macrocephaly
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive Rehabilitation Services
Integrated physical, occupational, and speech therapy addressing motor coordination, functional skills, and communication in neurodevelopmental disorder.
Behavioral Management Programs
Applied behavior analysis and behavioral interventions targeting adaptive skills, emotional regulation, and challenging behaviors.
Additional treatment options
Symptomatic Pharmacological Management
Targeted medication for specific symptoms such as anxiety, attention difficulties, or sleep disturbances under specialist supervision.
medicationMultisystem Health Surveillance
Regular monitoring for associated features including seizures, movement disorders, and other systemic manifestations.
monitoringSensory Integration Therapy
Occupational therapy interventions addressing sensory processing differences through structured sensory-rich environments and coping strategies.
complementaryWhen 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 Hao Fountain Syndrome Due To Usp7 Mutation C5816734?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Hao Fountain Syndrome Due To Usp7 Mutation C5816734. 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 25, 2026. · Read our editorial policy