Global Variome shared LOVD

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

Phenotype #0000291628 Individual ID 00398501 Associated disease CMT Phenotype details 2m-ocular disease; glaucoma (HP:0000501); asymptomatic Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite CMT4B2 Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset asymptomatic Protein - Owner name Sarah El-Bestawi Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sarah El-Bestawi Date created 2022-01-05 15:52:14 +01:00 (CET) Date last edited 2022-01-06 15:38:33 +01:00 (CET)

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