Phenotype #0000061056

Individual ID	00081471
Associated disease	ARCL1C
Phenotype details	generalized congenital cutis laxa with facial involvement, diaphragmatic hernia, pulmonary hypertension, perpheral pulmonary artery stenoses, dysplastic pulmonary and aortic valves, atrium septum defect, severe gastro-intestinal diverticula, hypotonia, gastric perforation, polyhydramnion, esohageal tortuosity, gastric perforation, tissue fragility
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 14:25:07 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD