Phenotype #0000297474

Individual ID	00404916
Associated disease	CMT
Phenotype details	no sensory loss; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; NCS normal; EMG chronic neurogenic changes;
Diagnosis/Initial	spinal muscular atrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMTRIC
Age/Examination	-
Age/Diagnosis	-
Age/Onset	10y
Phenotype/Onset	proximal upper limb and shoulder girdle weakness
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-10 18:10:34 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD