Phenotype #0000233211

Individual ID 00307646
Associated disease ARTS;MRXS18
Phenotype details -
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein PRPS activity in erythrocytes was markedly reduced confirming the pathogenicity of the variant
Owner name Sander Pajusalu
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Sander Pajusalu
Date created 2020-08-17 13:03:10 +02:00 (CEST)
Date last edited 2020-08-18 08:27:00 +02:00 (CEST)

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