Phenotype #0000044287

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00057639
Associated disease	PKD
Phenotype details	see paper; …, perinatal death, oligohydramnios, enlarged kidneys, 32wg-pepper and salt pattern in prenatal ultrasound, respiratory distress, postmortem with characteristic ARPKD findings liver/kidneys
Diagnosis/Initial	PKD4
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	<0d
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-01-23 03:23:58 +01:00 (CET)
Date last edited	2025-10-03 15:31:18 +02:00 (CEST)

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