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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
MESH:C567856: 
Orphanet:210144: