Phenotype #0000291625

Individual ID 00398498
Associated disease CMT
Phenotype details No glaucoma (-HP:0000501);

distal lower limb muscle weakness (HP:0009053); UL-hand muscle atrophy (HP:0009130); muscle atrophy, lower limb, distal (HP:0008944); pes enquines (HP:0001762); no hand deformities (-HP:0001155); no scoliosis (-HP:0002650)
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMT4B2
Age/Examination 43y (43 years)
Age/Diagnosis 12y
Age/Onset -
Phenotype/Onset Leg-muscle weakness (HP:0001324)
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 15:37:07 +01:00 (CET)
Date last edited 2022-01-06 15:23:14 +01:00 (CET)

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