Phenotype #0000061060

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00081475
Associated disease	ARCL1A
Phenotype details	congenital cutis laxa (with facial involvement), severe emphysema, normal cardiac status on echocardiography, high broad forehead, low broad nasal bridge, beaked nose, larage dysplastic ears, sagging cheeks, everted lower lip, photophobia, normal mental status, hypotonia
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	1y7m (1 year, 7 months)
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 13:16:42 +02:00 (CEST)
Date last edited	N/A