Phenotype #0000041869

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00055214
Associated disease	LMPHM1
Phenotype details	Milroy Disease; Typical Milroy disease with positive family history. Brother mutation positive. Mother is clinically unaffected and mutation positive. Rare polymorphism P1008L found in trans in this family (present in the father).
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
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	2012-07-12 15:58:53 +02:00 (CEST)

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