Global Variome shared LOVD

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

Phenotype #0000232768 Individual ID 00306948 Associated disease CMT Phenotype details height SD -6.61, weight SD -3.9, OFC SD -9.7; motor delay; speech delay; severe intellectual disability; facial dysmorphism; hearing loss, type unknown; hammertoes, spasticity, non-ambulatory; decreased vision, short and broad toes Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Isolated (sporadic) Diagnosis/Definite CMT2Z Age/Examination 23y (23 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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