Phenotype #0000154497

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00206627
Associated disease	-
Phenotype details	Clinodactyly, micrognathia, low-set ears, hypertelorism, short stature, normokalemic, bigeminy, bidirectional VT, LQT. muscle biopsy: tubular aggregates.
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Ikuko Takeda
Database submission license	No license selected
Created by	Ikuko Takeda
Date created	2013-05-22 12:31:07 +02:00 (CEST)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.