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Wolf-Hirschhorn syndrome

Disease Summary
Associated Targets (7)
Tbio

6

Tchem

1


GARD Rare
Mondo Description Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.
Disease Ontology Description A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4.
Mondo Term and Equivalent IDs
MONDO:0008684:  Wolf-Hirschhorn syndrome
GARD:0007896: 
MESH:D054877: 
NCIT:C35528: 
Orphanet:280: 
SCTID:718226002: 
UMLS:C0796117: 
UMLS:C0796202: 
UMLS:C1956097: 
UMLS:CN207113: