Phenotype #0000296652

Global Variome shared LOVD

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

Individual ID	00404059
Associated disease	CMT
Phenotype details	20-y female with progressive weakness and wasting of both upper and lower limbs and pes cavus. There was history of delayed motor development.
Diagnosis/Initial	Autosomal recessive Hereditary sensorimotor neuropathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	07y
Phenotype/Onset	-
Protein	-
Owner name	Sherifa Ahmed Hamed
Database submission license
Created by	Sherifa Ahmed Hamed
Date created	2022-02-25 16:38:15 +01:00 (CET)
Date last edited	2022-03-03 10:16:18 +01:00 (CET)

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