Phenotype #0000340184

Individual ID 00451434
Associated disease CTLN1
Phenotype details see paper; ..., no hyperammonemia; newborn screening; normal cognitive development
Diagnosis/Initial newborn screening
Inheritance Familial, autosomal recessive
Diagnosis/Definite CTLN1
Age/Examination -
Age/Diagnosis -
Age/Onset -
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
Date created 2024-06-03 12:28:30 +02:00 (CEST)
Date last edited N/A

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