Global Variome shared LOVD

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

Phenotype #0000061050 Individual ID 00081465 Associated disease ARCL1C Phenotype details cutis laxa - mainly on trunk, little facial involvement diaphragmatic slinding hernia peripheral pulmonary artery stenosis severe bladder diverticula rectal prolapse, joint hypermobility, large ears, beaked nose Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Bert Callewaert Database submission license No license selected Created by Bert Callewaert Date created 2012-06-18 13:33:32 +02:00 (CEST) Date last edited N/A

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