Phenotype #0000041848

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00055193
Associated disease	LMPHM1
Phenotype details	Milroy Disease, first described in Evans et al 1999; Congenital lymphoedema. Variable expression within family; unilateral/bilateral oedema incl. skin thickening associated with hyperkeratosis and papillomatosis. No evidenc e of edema in hands, face, trunk or sacrum.
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	0d
Phenotype/Onset	-
Protein	-
Owner name	Michel van Geel
Database submission license
Created by	Michel van Geel
Date created	2011-10-21 19:42:08 +02:00 (CEST)
Date last edited	2012-07-13 14:42:37 +02:00 (CEST)