Global Variome shared LOVD

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

Phenotype #0000061058 Individual ID 00081473 Associated disease ARCL1C Phenotype details congenital generalized cutis laxa with facial involvement, hiatal hernia, severe pulmonary emphysema, mild tricuspid regurgitation, pulmonary hypertension, bladder diverticula, hypotonia, large ears, frontal bossing, broad low nasal bridge, small fontanel, hypdronephrosis, tracheomalacia, joint hypermobility Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 6m 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 14:43:35 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.