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lethal polymalformative syndrome, Boissel type
Disease Summary
Associated Targets (1)
Tchem
1
Uniprot Description A severe polymalformation syndrome characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits and characteristic facial dysmorphism. In some patients, structural brain malformations, cardiac defects, genital anomalies, and cleft palate are observed. Early death occurs by the age of 3 years.
Mondo Term and Equivalent IDs
MONDO:0013050: lethal polymalformative syndrome, Boissel type
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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.
MESH:C567856
OMIM:612938
Orphanet:210144
MONDO:0013050
High level summary of knowledge for a disease, including descriptions and datasource references.