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Keppen-Lubinsky syndrome
Disease Summary
Associated Targets (1)
Tchem
1
Uniprot Description A rare disease characterized by severe developmental delay, intellectual disability, severe generalized lipodystrophy, dysmorphic features including microcephaly, large prominent eyes, narrow nasal bridge, tented upper lip, high palate, open mouth, tightly adherent skin, and aged appearance.
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:614098
Orphanet:435628
UMLS:C3279800
MONDO:0013572
High level summary of knowledge for a disease, including descriptions and datasource references.