Phenotype #0000272751

Individual ID	00377599
Associated disease	CEMCOX1
Phenotype details	Neuromuscular disease or hereditary sensory-motor neuropathy (axonal) with paraparesis of the legs, contractures of the ankle and metacarpophalangeal joints of the thumb, atrophy of the calf and foot muscles as well as the hand muscles, tongue fasciculations, tremor of the hands, Pes cavus on both sides, loss of the ability to walk at the age of 11. Younger brother with possible onset of similar symptoms
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Andreas Laner
Database submission license
Created by	Andreas Laner
Date created	2021-08-02 10:52:50 +02:00 (CEST)
Date last edited	2021-08-03 13:36:13 +02:00 (CEST)

Global Variome shared LOVD