Global Variome shared LOVD

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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 International 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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