Phenotype #0000300451

Individual ID	00408325
Associated disease	?
Diagnosis/Initial	Global developmental delay, complex partial epilepsy, central adrenal insufficiency, cortical blindness, and multiple brain abnormalities
Diagnosis/Definite	-
Phenotype details	This patient is part of a series that defines an autosomal recessive phenotype due to biallelic variants in WARS1.
Inheritance	Familial, autosomal recessive
Age/Examination	05y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Barbara Vona
Database submission license
Created by	Barbara Vona
Date created	2022-04-20 13:21:13 +02:00 (CEST)
Date last edited	2022-04-20 17:06:49 +02:00 (CEST)

Global Variome shared LOVD