Global Variome shared LOVD

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

Phenotype #0000053362 Individual ID 00073575 Associated disease JBS Diagnosis/Initial - Diagnosis/Definite - Phenotype details no diabetes, no GH deficiency (-HP:0000824), hyperactivity, café-au-lait spots Inheritance Isolated (sporadic) Age/Examination 15y03m (15 years, 3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Maja Sukalo Database submission license No license selected Created by Maja Sukalo Date created 2013-06-26 17:39:55 +02:00 (CEST) Date last edited 2020-07-26 16:38:12 +02:00 (CEST)

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