autosomal recessive limb-girdle muscular dystrophy type 2S
ORPHA: 369840
Overview
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the TRAPPC11 gene on chromosome 4q35
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 autosomal recessive limb-girdle muscular dystrophy type 2S, sourced from HPO and Orphanet clinical annotations.
CataractHyporeflexiaGait disturbanceAbsent speechHepatomegalyWaddling gaitElevated circulating hepatic transaminase concentrationMyopathyHyperlordosisMyalgiaMuscle spasmMuscular dystrophyProximal muscle weaknessLimb-girdle muscular dystrophyBorderline intellectual disabilityCerebral white matter atrophyAbnormal circulating creatine kinase concentrationMuscle fiber atrophyMicrocephalyHepatic steatosisBilateral tonic-clonic seizureChoreaTruncal ataxiaFloppy infantExophoria
Classification & Codes
Orphanet Code
ORPHA:369840autosomal recessive limb-girdle muscular dystrophy type 2S
| Orphanet | ORPHA:369840 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO