Phenotype #0000309021

Individual ID 00417541
Associated disease GACR;OATD
Phenotype details whole cohort description: typical gyrate atrophy clinical presentation; plasma ornithine values on a normal diet were 745-876 umol/liter (normal, 75-25 umol/liter); fibroblast OAT activity undetectable (<1% of normal) by a radioisotopic assa
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-09-19 13:08:11 +02:00 (CEST)
Date last edited N/A

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