Global Variome shared LOVD

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

Phenotype #0000301386 Individual ID 00409269 Associated disease HMN Phenotype details see paper; ..., abnormal gait; distal weakness upper limbs 4, 5, 4; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 3, 4; proximal weakness lower limbs 5, 5; muscle atrophy upper and lower limbs; no sensory findings upper and lower limbs; tendon reflexes normal upper limbs/lost lower limbs; gait disturbance steppage; no claw hands; no pes cavus; foot drop; Charcot-Marie-Tooth examination score 8 Diagnosis/Initial distal hereditary motor neuropathy Inheritance Familial, autosomal dominant Diagnosis/Definite HMN9 Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset 15y Phenotype/Onset abnormal gait Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-05-06 10:54:19 +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.