Global Variome shared LOVD

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

Phenotype #0000154218 Individual ID 00206077 Associated disease - Diagnosis/Initial - Diagnosis/Definite - Phenotype details 4 typical CALMs predominantly on R arm / segmental NF is possible / spor. Same missense mutation was found in the unaffected father Inheritance Familial Age/Examination - Age/Diagnosis 5y Age/Onset - Phenotype/Onset - Protein - 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

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