Phenotype #0000291711

Global Variome shared LOVD

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

Individual ID	00398625
Associated disease	CMT2K
Phenotype details	see paper; ..., peripheral neuropathy (HP:0009830), No decreased nerve conduction velocity (-HP:0000762)
Diagnosis/Initial	CMT
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	CMT2K
Age/Examination	69y (69 years)
Age/Diagnosis	-
Age/Onset	57y
Phenotype/Onset	Peripheral neuropathy (HP:0009830), No decreased nerve conduction velocity (-HP:0000762)
Protein	-
Owner name	Yvet den Hartog
Database submission license
Created by	Yvet den Hartog
Date created	2022-01-07 13:48:27 +01:00 (CET)
Date last edited	2022-01-18 16:04:46 +01:00 (CET)

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