Global Variome shared LOVD

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Phenotype #0000232766 Individual ID 00306946 Associated disease CMT Phenotype details height SD -2.32, weight SD -2.58, OFC SD -0.4; motor delay; speech delay; severe intellectual disability; facial dysmorphism; no hearing loss; no endocrine anomalies; hypotonia, decreased muscle bulk, proximal weakness, areflexia, non-ambulatory; sensory motor axonal neuropathy; MRI brain T2 hyperintensities of the central tegmental tract and superior cerebral peduncles, globus palladi, subthalamic nucleus and substantia nigra; unprovoked episodic deterioration in neurologic symptoms, followed by gradual recovery, frequent respiratory infections Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite CMT2Z Age/Examination 4y10m (4 years, 10 months) 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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