Global Variome shared LOVD

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Phenotype #0000293257 Individual ID 00400217 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), 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 24y (24 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 International Created by Yvet den Hartog Date created 2022-01-26 12:27:31 +01:00 (CET) Date last edited 2022-01-27 14:30:57 +01:00 (CET)

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