Phenotype #0000203384

Individual ID	00265597
Associated disease	PKDYS1;DTDS
Phenotype details	HP:0002015, HP:0002355, HP:0000750, HP:0002355, HP:0002015, HP:0002141, HP:0001347, HP:0000737, HP:0002451
Diagnosis/Initial	dopamine transporter deficiency syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	dopamine transporter deficiency syndrome
Age/Examination	03y? (approximately 3 years)
Age/Diagnosis	03y?
Age/Onset	?
Phenotype/Onset	HP:0002015, HP:0002355, HP:0000750, HP:0002355, HP:0002015, HP:0002141, HP:0001347, HP:0000737, HP:0002451
Protein	SLC6A3
Owner name	Ehsan Razmara
Database submission license	No license selected
Created by	Ehsan Razmara
Date created	2019-09-27 09:32:52 +02:00 (CEST)
Date last edited	2019-09-27 10:54:28 +02:00 (CEST)

Global Variome shared LOVD