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Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
ORPHA:314655
Classification level: Subtype of disorder- Synonym(s):
- 5q31.3 microdeletion syndrome
- Del(5)(q31.3)
- Monosomy 5q31.3
- Prevalence: <1 / 1 000 000
- Inheritance: Unknown
- Age of onset: Infancy, Neonatal
- ICD-10: Q93.5
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Summary
This disease is described under PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Detailed information
Article for general public
Professionals
- Clinical genetics review
- English (2017)
Additional information
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