Global Variome shared LOVD
PKLR (pyruvate kinase, liver and RBC)
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Curator:
Richard van Wijk
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Phenotype #0000327872
Individual ID
00437965
Associated disease
WITKOS
Diagnosis/Initial
-
Diagnosis/Definite
WITKOS
Phenotype details
see paper; ..., birth 42w; no hypotonia; no feeding difficulties; moderate intellectual disability (IQ60); no global developmental delay; no language delay; receptive > expressive ; 18m-first steps; no psychiatric diagnosis; epilepsy; ;
Inheritance
Isolated (sporadic)
Age/Examination
-
Age/Diagnosis
-
Age/Onset
36y3m
Phenotype/Onset
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2023-10-17 21:19:59 +02:00 (CEST)
Date last edited
N/A
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