Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000054418 Individual ID 00074676 Associated disease FANCS Phenotype details hypertelorism, epicanthal folds, ptosis, strabismus, blepharophimosis, broad nasal bridge and nasal tip, and proximally inserted thumbs Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Arleen D. Auerbach Database submission license No license selected Created by Arleen D. Auerbach Date created 2016-07-14 04:08:56 +02:00 (CEST) Date last edited N/A

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