Atxn7l3 Related Developmental Delay Hypotonia And Facial Dysmorphism Cn380214
A genetic disorder causing developmental delays, low muscle tone, and distinctive facial features in affected children.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- 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)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hypotonia (low muscle tone)
(neurologic)Facial dysmorphism (distinctive facial features)
(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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Intensive Physical Therapy
Early intervention physical therapy focusing on improving muscle tone, motor coordination, and developmental milestones through guided exercises and movement activities.
Developmental Pediatrics Monitoring
Regular comprehensive developmental assessments to track progress, identify emerging needs, and coordinate multidisciplinary interventions appropriately.
Additional treatment options
Occupational Therapy
Structured occupational therapy to improve fine motor skills, daily living activities, and sensory integration in children with developmental delays.
complementarySpeech and Language Therapy
Speech therapy addressing communication delays, oral motor function, and language development tailored to the individual's cognitive profile.
psychologicalStructured Home Environment Program
Home-based sensory and motor enrichment activities designed to complement clinical therapies and support neurodevelopmental progress.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Atxn7l3 Related Developmental Delay Hypotonia And Facial Dysmorphism Cn380214?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy