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Start free with EleplanSevere neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
ORPHA:314655Etiological subtype
Also called 5q31.3 microdeletion syndrome · Del(5)(q31.3) · Monosomy 5q31.3
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Unknown
- Classified as
- Etiological subtype
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
20- Brain atrophy
- Brain imaging abnormality
- Deep philtrum
- Delayed myelination
- Delayed speech and language development
- Depressed nasal bridge
- EEG abnormality
- Feeding difficulties in infancy
- High palate
- Intellectual disability, severe
- Micrognathia
- Motor delay
- Narrow forehead
- Neonatal hypotonia
- Prominent metopic ridge
- Ptosis
- Respiratory distress
- Sparse lateral eyebrow
- Telecanthus
- Tented upper lip vermilion
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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