Phenotype #0000292398

Individual ID 00398853
Associated disease CMT
Phenotype details see paper; Distal lower limb muscle weakness (HP:0009053), Distal upper limb muscle weakness (HP:0008959), Distal upper limb amyotrophy (HP:0007149), Distal lower limb amyotrophy (HP:0008944), Foot dorsiflexor weakness (HP:0009027), Talipes equinovarus (HP:0001762), Pes cavus (HP:0001761), Achilles tendon contracture (HP:0001771), Areflexia (HP:0001284), No pyramidal signs (-HP:0007328), No pyramidal signs (-HP:0002495)
Diagnosis/Initial Charcot-Marie-Tooth disease
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMT1F
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset 01y
Phenotype/Onset Motor delay (HP:0001270), Gait disturbance (HP:0001288), Abnormality of the calf musculature (HP:0001430)
Protein -
Owner name Farina Kemper
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Farina Kemper
Date created 2022-01-13 16:55:25 +01:00 (CET)
Date last edited 2022-01-18 16:52:08 +01:00 (CET)

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