Global Variome shared LOVD

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

Phenotype #0000061053 Individual ID 00081468 Associated disease ARCL1C Phenotype details generalized cutis laxa with facial involvement severe pulmonary emphysema congentital hernia diaphragmantica (surgery) peripheral pulmonary artery stenoses hypotonia frontal bossing, thin hair growth Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 2y (2 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 14:03:05 +02:00 (CEST) Date last edited N/A

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