Phenotype #0000258103

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00362733
Associated disease	TSD
Phenotype details	HP:0010729 Cherry red spot of the macula HP:0001250 Seizure HP:0002361 Psychomotor deterioration HP:0002376 Developmental regression HP:0001252 Hypotonia
Diagnosis/Initial	Tay-sachs Disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Tay-sachs Disease
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	infantile
Protein	-
Owner name	Rezvan Abtahi
Database submission license	No license selected
Created by	Rezvan Abtahi
Date created	2021-04-23 12:38:16 +02:00 (CEST)
Date last edited	2021-04-23 14:08:08 +02:00 (CEST)

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