Phenotype #0000301383

Individual ID	00409266
Associated disease	HMN
Phenotype details	see paper; ..., abnormal gait; distal weakness upper limbs 3, 4, 3; proximal weakness upper limbs 5, 5, 5; distal weakness lower limbs 1, 1; proximal weakness lower limbs 5, 4; muscle atrophy upper and lower limbs; no hyperpathia upper and lower limbs; tendon reflexes reduced upper limbs/lost lower limbs; gait disturbance steppage; claw hands; pes cavus; foot drop; Charcot-Marie-Tooth examination score 10
Diagnosis/Initial	distal hereditary motor neuropathy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	HMN9
Age/Examination	79y (79 years)
Age/Diagnosis	-
Age/Onset	23y
Phenotype/Onset	abnormal gait
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-05-06 10:54:19 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD