Phenotype #0000061057

Individual ID	00081472
Associated disease	ARCL1C
Phenotype details	mild cutis laxa (generalized with later onset), mild pulmonary emphysema, perpheral pulmonary artery stenoses, tricuspid regurgitation, prominent forehead, blepharophimosis, epicanthal folds, short nose, elongated philtrum, lowset ears, webbed neck, low posterior hear-line, pelvic insufficiency, brain abcesses.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	13y (13 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 14:33:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD