Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000351941 Individual ID 00466578 Associated disease PKD Phenotype details Oligohydramnios, bilateral renal enlargement, pulmonary hypoplasia, weak cry, gasping, cyanosis, dysmorphic features. Diagnosis/Initial ARPKD Inheritance Familial, autosomal recessive Diagnosis/Definite PKD4 Age/Examination 00y00m () Age/Diagnosis 00y00m Age/Onset - Phenotype/Onset - Protein - Owner name John Sayer Database submission license Creative Commons Attribution 4.0 International Created by John Sayer Date created 2025-09-15 10:37:28 +02:00 (CEST) Date last edited 2025-09-17 09:30:29 +02:00 (CEST)

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