Phenotype #0000061059

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00081474
Associated disease	ARCL1A
Phenotype details	generalized congenital cutis laxa with facial involvement, severe emphysema, inguinal hernias, peripheral pulmonary artery stenosis, pyloric stenosis, mild aortic and tricuspid valve regurgitation
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	11m
Age/Diagnosis	-
Age/Onset	0m
Phenotype/Onset	-
Protein	-
Owner name	Bert Callewaert
Database submission license	No license selected
Created by	Bert Callewaert
Date created	2012-06-18 13:23:44 +02:00 (CEST)
Date last edited	N/A

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