Global Variome shared LOVD

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Phenotype #0000290470 Individual ID 00397317 Associated disease CMT Phenotype details see paper; normal birth, perinatal events unremarkable; delayed early motor milestones (HP:0001270), 17m-walk; 5y-distal muscle weakness (HP:0002460), numbness (HP:0033748), symptoms progressed slowly;11y-pes cavus (HP:0001761), foot drop (HP:0001761); symmetrical weakness of ankle dorsiflexion, moderate atrophy distal muscles lower limbs (HP:0003693), atrophy thenar muscles upper limbs; absent tendon reflexes all limbs (HP:0001284); normal pinprick sensation, normal vibration sensation; normal cognition, cranial nerves, cerebellar function; axonal sensorimotor neuropathy with moderate decrease motor nerve conduction velocities median, ulnar, peroneal, tibial nerves, absence/severe decrease compound muscle action potential and sensory nerve action potential all tested nerves, ... Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite PNRIID Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Sarah El-Bestawi Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sarah El-Bestawi Date created 2021-12-20 14:42:39 +01:00 (CET) Date last edited 2021-12-27 15:31:14 +01:00 (CET)

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