/muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

Rare Disease

MONDO:0013835

Also Known As

ISPD muscular dystrophy-dystroglycanopathy, type AWalker-Warburg syndrome or muscle-eye-brain disease, ISPD-relatedmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPDMDDGA7

Definition

Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene.

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Comprehensive, easy-to-understand information about this condition

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Associated Genes

CRPPA ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614643 ↗

GARD

GARD:15829 ↗

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