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Human Disease and Mouse Model Detail
Human Disease Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1
OMIM ID: 236670
Synonyms Cerebroocular Dysplasia-Muscular Dystrophy Syndrome; COD-MD Syndrome; HARD Syndrome; Hydrocephalus, Agyria, and Retinal Dysplasia; Muscular Dystrophy-Dystroglycanopathy, Type A; Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomt1-Related
View all models View ALL (1) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Col4a1* COL4A1 View 1 model 1:1 Homology
     Fkrp FKRP*   1:1 Homology
Fktn FKTN*   1:1 Homology
Large LARGE*   1:1 Homology
Pomt1 POMT1*   1:1 Homology
Pomt2 POMT2*   1:1 Homology
References Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 5.21
The Jackson Laboratory