Linked Life Data

Leber congenital amaurosis-short stature-growth hormone insufficiency-mental retardation-hepatic dysfunction-metabolic acidosis syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0796015

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JABL: Leber congenital amaurosis (blindness present at birth or shortly thereafter with variable fundus changes, abnormal electroretinogram (ERG) in association with short stature, growth hormone insufficiency, mental retardation, liver dysfunction, and metabolic acidosis.
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