Phenotype #0000291626

Individual ID 00398499
Associated disease CMT
Phenotype details Birth-ocular disease; glaucoma (HP:0000501); 3/4y-foot deformity (HP:000160); gait disturbance (HP:0001288);

distal lower limb muscle weakness (HP:0009053); no UL-hand muscle atrophy (-HP:0009130); muscle atrophy, lower limb, distal (HP:0008944); pes cavus (HP:0001761); 11y- hammertoe (HP:0001765); no scoliosis (-HP:0002650)
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMT4B2
Age/Examination 18y (18 years)
Age/Diagnosis 03y
Age/Onset -
Phenotype/Onset 3/4y-foot deformity (HP:000160); gait disturbance (HP:0001288)
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 15:40:56 +01:00 (CET)
Date last edited 2022-01-06 15:33:53 +01:00 (CET)

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