congenital muscular dystrophy with intellectual disability
ORPHA: 370968
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 congenital muscular dystrophy with intellectual disability, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityElevated circulating creatine kinase concentrationFloppy infantHypoglycosylation of alpha-dystroglycanReduced muscle fiber alpha dystroglycanMicrocephalyGlobal developmental delayMotor delayCerebral cortical atrophyMultiple joint contracturesLimb-girdle muscle weaknessPoor gross motor coordinationCalf muscle hypertrophyFeeding difficultiesFatigable weakness of skeletal musclesCryptorchidismMicropenisAbnormality of the eyeStrabismusMyopiaPigmentary retinopathyAbnormality of the nervous systemReduced tendon reflexesCerebellar vermis hypoplasiaCerebellar hypoplasiaHypoplasia of the corpus callosumRespiratory insufficiencyVentriculomegalyPoor speechLoss of ambulationAbnormal periventricular white matter morphologyScoliosisHip dislocationRespiratory failureAxial muscle weaknessAbnormality of connective tissueSkeletal muscle hypertrophyDecreased cervical spine mobilityAbnormal pons morphologyNeuropathic spinal arthropathyFacial palsySevere intellectual disabilityAbnormality of the tongue muscle
Classification & Codes
Orphanet Code
ORPHA:370968congenital muscular dystrophy with intellectual disability
| Orphanet | ORPHA:370968 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO