Global Variome shared LOVD
PRDX1 (peroxiredoxin 1)
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Curator:
Global Variome, with Curator vacancy
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Phenotype #0000037137
Individual ID
00050525
Associated disease
?
Diagnosis/Initial
-
Diagnosis/Definite
-
Phenotype details
global developmental delay, delayed speech and language development, low-set ears, anteverted nares, bulbous nose, flat forehead, 2-3 toe syndactyly, joint laxity, cortical dysplasia, abnormality of blood and blood-forming tissues
Inheritance
Isolated (sporadic)
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Tumor/MSI
-
Diagnosis/Criteria
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2015-09-27 16:16:40 +02:00 (CEST)
Date last edited
N/A
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