XYLT1-CDG
ORPHA: 370930
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 XYLT1-CDG, sourced from HPO and Orphanet clinical annotations.
Cleft palateProptosisMyopiaHirsutismTruncal obesityRelative macrocephalyMicrocephalyLong philtrumSynophrysBroad ribsShort claviclesSoft, doughy skinAcneJoint dislocationJoint hypermobilityGrowth delayPes planusHepatomegalyModerate intellectual disabilityCoxa valgaFlared metaphysisShort long boneShort statureAccelerated skeletal maturationBroad thumbThick vermilion borderClinodactylyShort femoral neckMoon facies
Classification & Codes
Orphanet Code
ORPHA:370930XYLT1-CDG
| Orphanet | ORPHA:370930 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO