Preferred Label : Muscle Eye Brain disease;
ICD-11 definition : Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, which
includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less
severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic
brain and eye malformations, profound mental retardation, congenital muscular dystrophy,
and death usually in the first years of life. It represents the most severe end of
a phenotypic spectrum of similar disorders resulting from defective glycosylation
of DAG1, collectively known as dystroglycanopathies.;
ICD-11 synonym : MEB - [Muscle Eye Brain disease];
ICD-11 acronym : MEB;
Origin ID : 1330230975;
Automatic exact mappings (from CISMeF team)
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, which
includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less
severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic
brain and eye malformations, profound mental retardation, congenital muscular dystrophy,
and death usually in the first years of life. It represents the most severe end of
a phenotypic spectrum of similar disorders resulting from defective glycosylation
of DAG1, collectively known as dystroglycanopathies.
