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Seckel syndrome 6
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene.
Uniprot Description A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.
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:0070006
OMIM:614728
UMLS:C3553582
MONDO:0013871
High level summary of knowledge for a disease, including descriptions and datasource references.