Global Variome shared LOVD

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

Phenotype #0000223050 Individual ID 00289442 Associated disease ARCL2A Phenotype details generalized skin wrinkling, delayed closure of the anterior fontanelle. Diagnosis/Initial Cutis Laxa Inheritance Familial, autosomal recessive Diagnosis/Definite ARCL2A Age/Examination 25y (25 years) Age/Diagnosis 24y Age/Onset - Phenotype/Onset - Protein - Owner name Carmela Fusco Database submission license No license selected Created by Carmela Fusco Date created 2020-03-11 10:37:43 +01:00 (CET) Date last edited 2020-03-11 19:27:39 +01:00 (CET)

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