Donnai-Barrow syndrome

Source:http://linkedlifedata.com/resource/umls/id/C1857277

JABL: A rare syndrome of facial anomalies, iris coloboma, iris hypoplasia, cataract, myopia, retinal detachment, sensorineural hearing loss, and proteinuria. FOAR and syndrome of diaphragmatic hernia, exophthalmos, and hypertelorism (OMIM 22448) were once considered separate conditions but are now believed to represent the same entity. Intelligence varies from normal to delayed mental ability.

Download in:

View as