Global Variome shared LOVD

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

Phenotype #0000154067 Individual ID 00205926 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details >6 typical CALMs / bilateral axillary freckling / 2-6 possible neurofibromas and comprehensive NF1 testing negative; daughter reportedly also has NF1 and NF1 testing negative Inheritance Unknown Age/Examination - Age/Diagnosis 37y Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Ludwine Messiaen Database submission license No license selected Created by Ludwine Messiaen Date created 2014-08-29 17:44:01 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.