Phenotype #0000290972

Individual ID 00397845
Associated disease CMT
Phenotype details No glaucoma (-HP:0000501); distal lower limbs muscle weakness (HP:0009053); hand muscle atrophy-UL (HP:0009130); lower limb muscle atrophy-feet/calves (HP:0008956); foot deformity (HP:0001760); hammertoe (HP:0001765); no hand deformities (-HP:0001155); walks indepently-stumbles frequenly; absent deep tendon reflexes (HP:0001284); no scoliosis (-HP:0002650); waddling gait (HP:0002515)
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMT4B2
Age/Examination 11y (11 years)
Age/Diagnosis 06y
Age/Onset -
Phenotype/Onset Waddling gait (HP:0002515); hammertoe (HP:0001765)
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 2021-12-29 13:42:50 +01:00 (CET)
Date last edited 2022-01-06 15:11:36 +01:00 (CET)

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