PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
ORPHA: 438213
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityAbsent speechBroad-based gaitFloppy infantDelayed fine motor developmentNeurodevelopmental delayAbnormality of the eyeAbnormality of visionAbnormal conjugate eye movementSoft skinSeizureExcessive daytime somnolenceMotor delayDystoniaConstipationHypothermiaApneaExaggerated startle responseDroolingInability to walkHypoventilationObstructive sleep apneaBreathing dysregulationCentral sleep apneaReceptive language delayFeeding difficultiesStereotypical hand wringingRecurrent singultusDecreased circulating vitamin D concentrationDyskinesiaAbnormality of the genitourinary systemRetrognathiaFull cheeksStrabismusHypermetropiaEsotropiaNystagmusAbnormality of the endocrine systemAbnormality of the skeletal systemOsteoporosisMyoclonusJoint hypermobilityHip dysplasiaAbnormal heart morphologyDeep philtrumDysphagiaGastroesophageal refluxMyopathic faciesHypoplasia of the corpus callosumScoliosisInvoluntary movementsShort statureBilateral tonic-clonic seizure on awakeningEversion of lateral third of lower eyelidsAlmond-shaped palpebral fissureHigh anterior hairlineGeneralized tonic seizureEpileptic spasmAspiration pneumoniaDelayed myelinationWidened subarachnoid spaceExophoriaHyperintensity of cerebral white matter on MRIBrown anomalyCerebral visual impairmentCryptorchidismVesicoureteral refluxHydronephrosisUterine prolapseOptic disc pallorNephrolithiasisHypothyroidismPrecocious pubertyIncreased circulating prolactin concentrationOsteopeniaAbsent septum pellucidumVentricular septal defectAtrial septal defectPulmonic stenosisPatent ductus arteriosusBicuspid aortic valvePatent foramen ovaleAnemiaAbnormality of the anterior pituitaryAnomalous origin of left subclavian arteryDecreased circulating iron concentration
Classification & Codes
Orphanet Code
ORPHA:438213PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
| Orphanet | ORPHA:438213 |
| Treatments | 0 drug(s) |
| Symptoms on record | 86 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO