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van Maldergem syndrome 1
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.
Uniprot Description An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia.
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 Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080585
OMIM:601390
MONDO:0011070
High level summary of knowledge for a disease, including descriptions and datasource references.