mucolipidosis type III
ORPHA: 577
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 mucolipidosis type III, sourced from HPO and Orphanet clinical annotations.
Genu valgumHyperlordosisCorneal opacityProminent occiputVisual impairmentJoint stiffnessDeficiency of N-acetylglucosamine-1-phosphotransferaseAbnormal hip bone morphologyAbnormal form of the vertebral bodiesShort statureCraniofacial hyperostosisLarge iliac wingHypoplastic inferior iliaStiff fingerCoarse facial featuresOsteopeniaDysostosis multiplexHip dysplasiaMitral valve prolapseScoliosisOsteoarthritisBullet-shaped distal phalanges of the handConstrictive median neuropathyChronic painAbnormal cardiovascular system morphologyClaw hand deformityCognitive impairmentBroad ribsThickened skinMitral regurgitationAortic regurgitationRestrictive ventilatory defectSpinal cord compressionWaddling gaitReduced bone mineral densityFatigue
Classification & Codes
Orphanet Code
ORPHA:577mucolipidosis type III
| Orphanet | ORPHA:577 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO