Global Variome shared LOVD

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

Phenotype #0000297446 Individual ID 00404883 Associated disease CMT Phenotype details 48-y with progressive distal weakness and wasting of both upper and lower limbs, hyporeflexia, stocking and glove hypesthesia, deep sensory impairment and Pes Cavus. Nerve conduction velocity study showed axonal peripheral neuropathy. Diagnosis/Initial CMT Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset 27y Phenotype/Onset - Protein - Owner name Sherifa Ahmed Hamed Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sherifa Ahmed Hamed Date created 2022-03-10 02:50:54 +01:00 (CET) Date last edited 2022-03-10 15:40:49 +01:00 (CET)

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