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Summary Literature (0)
DOID:0060229 - Baraitser-Winter syndrome


Disease Ontology Definition:A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.

Synonyms:

In OMIM:
OMIM:243310 - BARAITSER-WINTER SYNDROME 1; BRWS1

In Mondo Disease Ontology:
MONDO:0017579 - Baraitser-Winter cerebrofrontofacial syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : actb, actg1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): syndrome (is_a)