Phenotype #0000292213

Individual ID 00399124
Associated disease CMT4A
Phenotype details Lower limb amyotrophy (HP:0007210), Upper limb amyotrophy (HP:0009129), Intrinsic hand muscle atrophy (HP:0008954), Areflexia (HP:0001284), Proximal muscle weakness (HP:0003701), Somatic sensory dysfunction (HP:0003474), Impaired distal tactile sensation (HP:0006937), Impaired pain sensation (HP:0007328), Pes cavus (HP:0001761), No hoarse voice (-HP:0001609), No vocal cord paresis (-HP:0001604), No diaphragmatic paralysis (HP:0006597), No cognitive impairment (-HP:0100543), No Decreased compound muscle action potential amplitude (-HP:0033383), No respiratory failure (-HP:0002878), Difficulty running (HP:0009046)
Diagnosis/Initial CMT
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMT4A
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset 02y03m
Phenotype/Onset Difficulty running (HP:0009046)
Protein -
Owner name Yvet den Hartog
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Yvet den Hartog
Date created 2022-01-15 23:51:29 +01:00 (CET)
Date last edited 2022-01-16 10:21:20 +01:00 (CET)

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