congenital cataracts-sensorineural deafness-Down syndrome-like facial appearance-short stature-mental retardation syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0795903

JABL: A syndrome, originally reported in two unrelated patients, with congenital cataracts, sensory deafness, distinctive facies, skeletal changes, short stature, and mental retardation.

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