muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
ORPHA: 899
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 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, sourced from HPO and Orphanet clinical annotations.
AreflexiaPachygyriaCerebellar hypoplasiaMuscle weaknessSpecific learning disabilityLissencephalyAplasia/Hypoplasia involving the skeletal musculatureVentriculomegalyPolymicrogyriaAbnormality of neuronal migrationAbnormal cerebellar vermis morphologyAbnormal cortical gyrationSkeletal muscle atrophyMuscular dystrophyChorioretinal dysplasiaRetinal dysplasiaMetatarsus valgusAbnormal circulating aldolase concentrationAbnormal circulating creatine kinase concentrationAbnormal circulating lactate dehydrogenase concentrationCryptorchidismMacrocephalyGlaucomaAnophthalmiaMicrophthalmiaAgenesis of corpus callosumDandy-Walker malformationAbsent septum pellucidumCorneal opacityHypoplasia of penisCleft palateSubmucous cleft hard palateBifid uvulaMicrocephalyPosteriorly rotated earsLow-set earsProtruding earMicrocorneaCataractIris colobomaSeizureHydrocephalusRetinal detachmentRetinal dystrophyAbnormal optic nerve morphologyOptic atrophyIntellectual disabilityHypotoniaGlobal developmental delayHyporeflexia
Classification & Codes
Orphanet Code
ORPHA:899muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
| Orphanet | ORPHA:899 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO