Global Variome shared LOVD

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

Phenotype #0000154070 Individual ID 00205929 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details >6 typical CALMs / 1L axillary freckle / spor; not found in mom who has 1 hyperpigmented macule on L hip with freckling within the margins / and lipoma on L shoulder; dad is 38y with 2 hypopigmented areas on arms and hypertension carries mutation Inheritance Familial Age/Examination - Age/Diagnosis 10m 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

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