blepharophimosis-ptosis-syndactyly-short stature syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0796211

JABL: A blepharophimosis-ptosis syndrome with weakness of extraocular and frontal muscles, prognathism, synophrys, and thick eyebrows. Borderline mental retardation and anosmia were observed in 1 out of 4 cases in the original report.

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