muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
MONDO:0009364
An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1. Results are keyword matches, not yet verified disease-to-outbreak relationships.
View muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 on the outbreak map →Walker–Warburg syndrome
Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocular dysgenesis (COD) or cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD), is a rare form of autosomal recessive congenital muscular dystrophy. It is associated with brain (lissencephaly, hydrocephalus, cerebellar malformations) and eye abnormalities. This condition has a worldwide distribution. Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns worldwide.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.