severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
ORPHA: 314655
Overview
human disease
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion, sourced from HPO and Orphanet clinical annotations.
High palateNarrow foreheadMicrognathiaTelecanthusPtosisDelayed speech and language developmentMotor delayNeonatal hypotoniaDeep philtrumRespiratory distressEEG abnormalityDepressed nasal bridgeSparse lateral eyebrowProminent metopic ridgeFeeding difficulties in infancyTented upper lip vermilionSevere intellectual disabilityBrain atrophyDelayed myelinationBrain imaging abnormalityLow-set earsAnteverted naresDownslanted palpebral fissuresSeizureMyoclonusAbnormal heart morphologyApneaHypoventilationShort noseRecurrent pneumoniaSevere muscular hypotoniaPolydactylyEpileptic spasmSpeech apraxiaFocal tonic seizureAspiration pneumoniaBilateral tonic-clonic seizure with generalized onset
Classification & Codes
Orphanet Code
ORPHA:314655severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
| Orphanet | ORPHA:314655 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO