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Dubowitz syndrome

Disease Summary
Associated Targets (2)
Tbio

2


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Mondo Description Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
Disease Ontology Description A syndrome that is a rare genetic disorder characterized by microcephaly, growth retardation and a characteristic facial appearance like small, round, triangular shaped with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
Mondo Term and Equivalent IDs
MONDO:0009124:  Dubowitz syndrome
GARD:0006290: 
MESH:C535718: 
NCIT:C125591: 
Orphanet:235: 
SCTID:2593002: 
UMLS:C0175691: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)