Phenotype #0000226949

Individual ID	00299639
Associated disease	NDHSAL
Phenotype details	-
Diagnosis/Initial	Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
Age/Examination	07y? (approximately 7 years)
Age/Diagnosis	07y?
Age/Onset	?
Phenotype/Onset	HP:0000750, HP:0007185, HP:0007240, HP:0003270, HP:0007270, HP:0008936, HP:0000408, HP:0008619,
Protein	-
Owner name	Ehsan Razmara
Database submission license	No license selected
Created by	Ehsan Razmara
Date created	2020-04-18 08:23:28 +02:00 (CEST)
Date last edited	2020-04-21 09:17:53 +02:00 (CEST)

Global Variome shared LOVD