NGLY1-deficiency
ORPHA: 404454
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 NGLY1-deficiency, sourced from HPO and Orphanet clinical annotations.
Decreased CSF homovanillic acid concentrationHypotriglyceridemiaAbnormal myelinationChronic constipationDecreased CSF 5-hydroxyindolacetic acid concentrationDecreased CSF protein concentrationDecreased CSF albumin concentrationPigmentary retinopathyOptic atrophyBilateral ptosisCorneal neovascularizationLagophthalmosDecreased CSF biopterin levelFacial hypotoniaCorneal scarringOculomotor apraxiaHyporeflexiaDystoniaMyoclonusCongenital hip dislocationJoint hypermobilityHip dysplasiaMicronodular cirrhosisMicrovesicular hepatic steatosisSplenomegalyAchilles tendon contractureReduced factor XI activityChoreaVentriculomegalyGeneralized non-motor (absence) seizureGliosisRecurrent respiratory infectionsHepatomegalyAthetosisAction tremorPoor head controlScoliosisCoxa valgaDelayed skeletal maturationGeneralized aminoaciduriaAcromesomeliaLimb joint contractureAxonal lossShoulder dislocationReduced bone mineral densitySecondary microcephalyReduced protein C activityProlonged prothrombin timeAtonic seizureFocal emotional seizure with laughingFocal tonic seizureHypofibrinogenemiaNodular regenerative hyperplasia of liverDecreased resting energy expenditureDelayed myelinationInfantile spasmsAstasiaDelayed ability to sitStaring gazeFatigable weakness of speech musclesSuck reflexLingual dystoniaTarsal sclerosisImpaired oral bolus formationImpaired oropharyngeal swallow responseSclerosis of finger phalanxOptic disc pallorCone/cone-rod dystrophyExotropiaCerebral atrophyHyperkinetic movementsSensorimotor neuropathyAlacrimaDecreased lacrimationIntellectual disabilityGlobal developmental delayChoreoathetosisCerebellar atrophyAbsent speechFailure to thriveSmall for gestational ageGeneralized myoclonic seizureProfound intellectual disabilityEEG abnormalityDevelopmental regressionPoor speechInability to walkIncreased susceptibility to fracturesObstructive sleep apneaElevated circulating hepatic transaminase concentrationDecreased LDL cholesterol concentration
Classification & Codes
Orphanet Code
ORPHA:404454NGLY1-deficiency
| Orphanet | ORPHA:404454 |
| Treatments | 0 drug(s) |
| Symptoms on record | 91 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO