Phenotype #0000228492

Global Variome shared LOVD

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

Individual ID	00301224
Associated disease	neuropathy
Diagnosis/Initial	dHMN
Diagnosis/Definite	-
Phenotype details	mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced; upper limb tremor
Inheritance	Familial, autosomal recessive
Age/Examination	28y (28 years)
Age/Onset	18y
Phenotype/Onset	unable to stand on toes, unable to wear high heels
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-10 11:49:06 +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.