Phenotype #0000332944

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00443643
Associated disease	MKS
Diagnosis/Initial	Meckel syndrome
Diagnosis/Definite	MKS3
Phenotype details	17wg cerebellar vermis agenesis; cystic kidneys; bile duct proliferation
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	2023-11-29 19:38:05 +01:00 (CET)
Date last edited	N/A

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