Phenotype #0000301952

Individual ID 00409837
Associated disease -
Phenotype details -
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein substantial reduction of NAD-IDH activity, with about a 300-fold increase in the Km for NAD
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-11 20:50:02 +02:00 (CEST)
Date last edited N/A

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