Phenotype #0000291629

Individual ID 00398502
Associated disease CMT
Phenotype details 32y-ocular disease; increased IOP (HP:0007906); 3y-footdrop (HP:0009027); leg-distal muscle weakness (HP:0002460); distal upper limb muscle weakness (HP:0008959); distal lower limb muscle weakness (HP:0009053); UL-hand muscle atrophy (HP:0009130); feet-upper limb muscle atrophy; 23y-pes cavovarus; claw hands (HP:0001171); increased deep tendon reflexes (HP:0001347); gait disturbance(HP:0001288); hypophonia (HP:0001621)
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMT4B2
Age/Examination 35y (35 years)
Age/Diagnosis 03y
Age/Onset 03y
Phenotype/Onset footdrop (HP:0009027); leg-distal muscle weakness (HP:0002460
Protein -
Owner name Sarah El-Bestawi
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Sarah El-Bestawi
Date created 2022-01-05 15:57:34 +01:00 (CET)
Date last edited 2022-01-06 15:40:23 +01:00 (CET)

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