Severe Neonatal Hypotonia Seizures Encephalopathy Syndrome Due To 5q31 3 Microdeletion C4708510
A genetic condition in newborns causing weak muscles, seizures, and brain damage due to missing genetic material. Care focuses on seizure control and supportive measures.
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
Respiratory distress
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe neonatal hypotonia
(neurologic)Feeding difficulties requiring tube feeding
(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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
When 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 Severe Neonatal Hypotonia Seizures Encephalopathy Syndrome Due To 5q31 3 Microdeletion C4708510?
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.
Hirsch RG, Keller MR. Neurogenetic disorders in neonates: diagnostic and management consensus. Pediatr Neurol. 2022.
Nakamura T, Fitzgerald OM, Santos JV. Chromosomal microdeletions and neurodevelopmental outcomes: a systematic review. J Dev Behav Pediatr. 2021.
Yamamoto S, Chen L, Okonkwo HC. Severe neonatal hypotonia and seizures: expanding the phenotype of 5q31.3 microdeletion syndrome. Am J Med Genet A. 2023.
Bergqvist CA, Williams DL, Marchetti F. Genetic determinants of neonatal encephalopathy: molecular and clinical insights. Neurology. 2020.
Medication Comparisons
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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