Phenotype #0000061054

Individual ID 00081469
Associated disease ARCL1C
Phenotype details congenital generalized cutis laxa with facial involvement, inguinal herniae, severe pulmonary emphysema, diaphragmatic hernia (surgery), polyvalvular disease, atrial septum aneurysm, recal rplapse, abdomnial wall herniae, prominent veins
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 10y (10 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 14:10:31 +02:00 (CEST)
Date last edited N/A

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