Familial congenital monochromatism, cataracts, and sensorineural deafness.
Two sisters had diagnoses of congenital monochromatism, cataracts, bilateral nonprogressive sensorineural deafness, and hyperinsulinism in both, and labyrinthine dysfunction in one. This recessively inherited condition is added to the growing number of syndromes in which one of the features may be a disturbance of hypothalamic function.
D002386:Cataract / Q000235:genetics*; D003117:Color Vision Defects / Q000151:congenital / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics; D007223:Infant; D013577:Syndrome