aspartylglucosaminuria
MeSH: D054880ORPHA: 93
Overview
disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues
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 aspartylglucosaminuria, sourced from HPO and Orphanet clinical annotations.
Gingival overgrowthMandibular prognathiaHypertelorismWide nasal bridgeDelayed speech and language developmentIntellectual disabilityUmbilical herniaAbnormal facial shapeAbnormal speech patternScoliosisShort noseAbnormality of amino acid metabolismMicrotiaAspartylglucosaminuriaThick vermilion borderDyskinesiaLarge faceMacroorchidismMacroglossiaAbnormality of the dentitionCoarse facial featuresCarious teethPectus carinatumThickened calvariaAbnormal cortical bone morphologyAnterior beaking of lumbar vertebraeAbnormal morphology of ulnaInguinal herniaChronic otitis mediaAtypical behaviorSeizureArthritisJoint stiffnessSplenomegalyPes planusMalabsorptionRecurrent respiratory infectionsHepatomegalySleep disturbanceDelayed skeletal maturationAbnormal vertebral morphologyBeaking of vertebral bodiesVascular skin abnormality
Classification & Codes
MeSH Code
D054880Orphanet Code
ORPHA:93aspartylglucosaminuria
| MeSH | D054880 |
| Orphanet | ORPHA:93 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO