Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000232770 Individual ID 00306950 Associated disease CMT Phenotype details height SD -3.69, weight SD -3.32, OFC SD -2.04; motor delay; speech delay; mild intellectual disability; facial dysmorphism; sensorineural hearing loss, mild-to-moderate; no endocrine anomalies; hypotonia, weakness, areflexia, hammertoes, pes cavus, intoeing gait; sensory motor polyneuropathy; MRI brain hypomyelination Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite DIGFAN Age/Examination 00y84m (84 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 2023-12-04 21:38:51 +01:00 (CET)

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