Phenotype #0000290966

Individual ID 00397839
Associated disease CMT
Phenotype details Vocal cord hoarseness (HP:0001604); delayed motor development (HP:0001270);

5y-gait disturbance (HP:0001288); frequent falls during walking (HP:0002359); decreased vibration sense (HP:0002495); decreased position sensation; feet disformities; decreased deep tendon reflexes (HP:0001315); sensory loss (HP:0002936)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 07y (7 years)
Age/Diagnosis -
Age/Onset 05y
Phenotype/Onset -
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 11:23:41 +01:00 (CET)
Date last edited 2021-12-29 13:33:28 +01:00 (CET)

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