Phenotype #0000003017

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00004221
Associated disease	FDH
Phenotype details	bilateral microphthalmia; dense intra-ocular tissue; large thoraco-lumbar spina bifida; hydronephrosis of left kidney; hypospadias; disarrayed toes; deceased day 10 due to respiratory insufficiency.
Diagnosis/Initial	-
Inheritance	Familial, X-linked dominant
Diagnosis/Definite	-
Age/Examination	00y00m ()
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Paul Brady
Database submission license	No license selected
Created by	Paul Brady
Date created	2014-01-21 11:49:49 +01:00 (CET)
Date last edited	2014-01-24 10:49:05 +01:00 (CET)

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