Global Variome shared LOVD

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

Phenotype #0000143377 Individual ID 00181209 Associated disease NF1 Phenotype details Multiple cafè au lait spots, axillary freckling, multiple subcutaneous and cutaneous lesions (some surgically removed, all with histological diagnosis of "neurofibroma") Diagnosis/Initial cafè au lait spots Inheritance Familial, autosomal dominant Diagnosis/Definite type 1 Neurofibromatosis (NF1) Age/Examination 46y (46 years) Age/Diagnosis 46y Age/Onset 00y Phenotype/Onset 0y Protein - Owner name Emanuele Micaglio Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Emanuele Micaglio Date created 2018-10-04 16:45:19 +02:00 (CEST) Date last edited 2018-10-05 13:45:32 +02:00 (CEST)

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