|
?:definition
|
-
A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21.
|
![[This page as RDF]](https://research.tib.eu/covid-19/static/rdf-icon.gif){kind=icon}