Global Variome shared LOVD

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

Phenotype #0000061052 Individual ID 00081467 Associated disease ARCL1C Phenotype details generalized cutis laxa with facial involvement severe pulmonary emphysema peripheral pulmonary artery stenoses hypotonia bladder diverticula large ears, low nasal bridge, prominent veins Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 3m 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 13:51:38 +02:00 (CEST) Date last edited N/A

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