severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
MONDO:0017811Mondo
Findings
No curated finding names severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic neurological disease in which the cause of the disease is a 5q31.3 deletion encompassing all or part of PURA gene.
Definition from the Mondo Disease Ontology (MONDO:0017811), read 2026-09-29. CC BY 4.0.
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Brain atrophyHPOHP:0012444
- Frequent (30% to 79% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Frequent (30% to 79% of cases)
- Deep philtrumHPOHP:0002002
- Frequent (30% to 79% of cases)
- Delayed myelinationHPOHP:0012448
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Narrow foreheadHPOHP:0000341
- Frequent (30% to 79% of cases)
Show the remaining 25
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
- Prominent metopic ridgeHPOHP:0005487
- Frequent (30% to 79% of cases)
- PtosisHPOHP:0000508
- Frequent (30% to 79% of cases)
- Respiratory distressHPOHP:0002098
- Frequent (30% to 79% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
- Sparse lateral eyebrowHPOHP:0005338
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- Also called
- 5q31.3 microdeletion syndromeDel(5)(q31.3)monosomy 5q31.3