Phenotype #0000293256

Individual ID 00400216
Associated disease CMT2
Phenotype details Distal muscle weakness (HP:0002460), Distal lower limb amyotrophy (HP:0008944), Pes cavus (HP:0001761), Hammertoe (HP:0001765), Impaired vibratory sensation (HP:0002495), Reduced tendon reflexes (HP:0001315), No abnormal cranial nerve morphology (-HP:0001291), Difficulty running (HP:0009046), Difficulty walking (HP:0002355), Exercise intolerance (HP:0003546), Gait imbalance (HP:0002141), No abnormality of higher mental function (-HP:0011446), Motor axonal neuropathy (HP:0007002), No decreased nerve conduction velocity (-HP:0000762), EMG: neuropathic changes (HP:0003445), No abnormal brainstem MRI signal intensity (HP:0012747)
Diagnosis/Initial CMT
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMT2
Age/Examination 28y (28 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset Lower limb muscle weakness (HP:0007340)
Protein -
Owner name Yvet den Hartog
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Yvet den Hartog
Date created 2022-01-26 12:23:23 +01:00 (CET)
Date last edited 2022-01-27 14:30:46 +01:00 (CET)

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