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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction.
Mondo Term and Equivalent IDs
MONDO:0014140: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111233
OMIM:615350
UMLS:C3809216
MONDO:0014140
High level summary of knowledge for a disease, including descriptions and datasource references.