Global Variome shared LOVD
PKHD1 (polycystic kidney and hepatic disease 1 (au...))
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Curator:
Global Variome, with Curator vacancy
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Phenotype #0000338734
Individual ID
00449559
Associated disease
autism
Inheritance
Isolated (sporadic)
Diagnosis/Initial
developmental delay
Age/Examination
-
Diagnosis/Definite
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Phenotype details
HP:0000252, HP:0000286, HP:0000288, HP:0000316, HP:0000752, HP:0000774, HP:0001249, HP:0001263, HP:0003781, HP:0010864, HP:0100716, HP:0100025, HP:0100716
Protein
-
Owner name
Marketa Wayhelova
Database submission
license
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Created by
Marketa Wayhelova
Date created
2024-04-22 16:28:48 +02:00 (CEST)
Date last edited
2024-04-24 09:34:10 +02:00 (CEST)
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