Phenotype #0000170859

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00225748
Associated disease	MKS
Diagnosis/Initial	Meckel-Gruber syndrome
Diagnosis/Definite	MKS-6
Phenotype details	fetus 20w; cystic kidneys characteristic of Meckel syndrome; bile duct proliferation liver; Dandy-Walker; polydactily upper/lower limbs; hypospadias, ulnar bowing, accessory spleen, gonadal dysgenesis
Inheritance	Familial, autosomal recessive
Age/Examination	<0d
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-02-23 21:23:16 +01:00 (CET)
Date last edited	N/A

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