Phenotype #0000291443

Individual ID	00398320
Associated disease	CMT
Phenotype details	No glaucoma (-HP:0000501); Delayed early motor milestones (HP:0001270); 2y-independent walking; distal muscle weakness (HP:0002460); muscle wasting (HP:0003202); distal upper limb muscle weakness (HP:00008959); distal lower limb muscle weakness (HP:0009053); distal upper limb muscle atrophy-hands (HP:0007149); foot deformity (HP:0001760); pes enquines (HP:0001762); claw hands (HP:0001171); increased deep tendon reflexes (HP:0001374); steppage gait (HP:0003376); no scoliosis (-HP:0002650)
Diagnosis/Initial	Charcot-Marie-Tooth disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT4B2
Age/Examination	-
Age/Diagnosis	12y
Age/Onset	07y
Phenotype/Onset	Distal muscle weakness (HP:0002460); muscle wasting (HP:0003202)
Protein	-
Owner name	Sarah El-Bestawi
Database submission license
Created by	Sarah El-Bestawi
Date created	2022-01-04 12:03:35 +01:00 (CET)
Date last edited	2022-01-06 15:16:42 +01:00 (CET)

Global Variome shared LOVD