Global Variome shared LOVD

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Phenotype #0000232773 Individual ID 00306953 Associated disease CMT Phenotype details height SD -3.3, weight SD -0.96, OFC SD -3.5; motor delay; speech delay; moderate intellectual disability; facial dysmorphism; sensorineural hearing loss, mild-to-moderate, bilateral; no endocrine anomalies; hypotonia, hyperreflexia, mild hemiplegic gait, tremor, dystonia, scoliosis; MRI brain cortical dysplasia; fetal finger pads, bilateral sandal gap, clynodactyly of toes 3, 4, and 5 Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite CMT2Z Age/Examination 12y (12 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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