Phenotype #0000292069

Individual ID	00398980
Associated disease	CMT4A
Phenotype details	Gait disturbance (HP:0001288),Lower limb amyotrophy (HP:0007210), Split hand (HP:0001171), Difficulty running (HP:0009046), Difficult climbing stairs (HP:0003551), Lower limb muscle weakness (HP:0007340), High-arched feet Pes cavus (HP:0001761), Ankle weakness (HP:0031374), Limited ankle dorsiflexion (HP:0033526), No spinal deformities (-HP:0008443), Reduced tendon reflexes (HP:0001315), No impaired tactile sensation (-HP:0010830), No impaired pain sensation (-HP:0007328), Decreased nerve conduction velocity (HP:0000762)
Diagnosis/Initial	CMT
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CMT4A
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	06y
Phenotype/Onset	Difficulty running (HP:0009046), Difficult climbing stairs (HP:0003551)
Protein	-
Owner name	Yvet den Hartog
Database submission license
Created by	Yvet den Hartog
Date created	2022-01-15 13:48:03 +01:00 (CET)
Date last edited	2022-01-15 18:18:47 +01:00 (CET)

Global Variome shared LOVD