mucolipidosis
ICD-10: E77.0MeSH: D009081ORPHA: 423461
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, sourced from HPO and Orphanet clinical annotations.
Joint stiffnessShort staturePostnatal growth retardationOligosacchariduriaGingival overgrowthCoarse facial featuresEpicanthusFull cheeksRecurrent otitis mediaConductive hearing impairmentShort neckDysostosis multiplexThickened skinGait disturbanceFlexion contractureMitral regurgitationAortic regurgitationBone painKyphoscoliosisDepressed nasal bridgeAbdominal wall muscle weaknessKeratan sulfate excretion in urineGeneralized osteoporosisUmbilical herniaDiastasis rectiHoarse voiceCongestive heart failureRight ventricular hypertrophyLoss of ambulationRecurrent upper respiratory tract infectionsOsteolysisCorneal opacityConstrictive median neuropathyCognitive impairmentSensorineural hearing impairmentProptosis
Classification & Codes
ICD-10 Code
E77.0MeSH Code
D009081Orphanet Code
ORPHA:423461mucolipidosis
| ICD-10 | E77.0 |
| MeSH | D009081 |
| Orphanet | ORPHA:423461 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO