Global Variome shared LOVD

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Phenotype #0000232775 Individual ID 00306955 Associated disease CMT Phenotype details height SD -2.07, weight SD -1.23, OFC SD -2.05; motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, moderate-to-severe, bilateral; no endocrine anomalies; severe spasticity (asymmetric), lower extremity hyperreflexia, unsteady, wide based gait, hammertoes and high arches not present on exam at age 12 years but significant at age 15 years; MRI brain cerebellar atrophy; resting tremor and dysmetria, history of seizures and staring spells with normal EEG, Wolff-Parkinson-White syndrome, vision impairment Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Unknown Diagnosis/Definite CMT2Z Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-24 12:53:42 +02:00 (CEST) Date last edited N/A

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