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Lamb-Shaffer syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present.
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.
OMIM:616803
Orphanet:530983
UMLS:C4225202
MONDO:0014778
High level summary of knowledge for a disease, including descriptions and datasource references.