Phenotype #0000297167

Individual ID 00404583
Associated disease argininemia
Phenotype details see paper; ..., learning difficulties, spastic diplegia, seizures, two hyperammonemic episodes
Diagnosis/Initial argininemia
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 05y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen