mucolipidosis type IV
ICD-10: E75.1ORPHA: 578
Overview
Lysosomal storage 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 IV, sourced from HPO and Orphanet clinical annotations.
Everted lower lip vermilionMicrocephalyCoarse facial featuresStrabismusRetinopathyAbnormal electroretinogramPhotophobiaNystagmusMicrodontiaAtypical behaviorPalmoplantar keratodermaIntellectual disabilityAtaxiaHypotoniaGait disturbanceAbsent speechHyperreflexiaEEG abnormalityGenu recurvatumGanglioside accumulationBiparietal narrowingAbnormal nasal morphologyDevelopmental stagnationAbnormal retinal pigmentationCorneal opacityAplasia/Hypoplasia of the abdominal wall musculatureAbnormality of mucopolysaccharide metabolism
Classification & Codes
ICD-10 Code
E75.1Orphanet Code
ORPHA:578mucolipidosis type IV
| ICD-10 | E75.1 |
| Orphanet | ORPHA:578 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO