Phenotype #0000332857

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00443523
Associated disease	MKS
Diagnosis/Initial	Meckel syndrome
Diagnosis/Definite	MKS3
Phenotype details	see paper; ..., occipital encephalocele; Dandy-Walker cyst; renal cystic dysplasia; hepatic developmental defects (hepatic fibrosis, bile duct proliferation, ductal plate malformation); upper limb post-axial polydactyly (left hand)
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-28 19:44:21 +01:00 (CET)
Date last edited	2023-11-28 19:57:54 +01:00 (CET)

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