Global Variome shared LOVD

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

Phenotype #0000357065 Individual ID 00472256 Associated disease CMYO16;MYOTREM Diagnosis/Initial Congenital myopathy Diagnosis/Definite CMYO16 Phenotype details 0003198: Myopathy, 0009062: Axial hypotonia in infants, 0012389: Appendicular hypotonia, 0002174: Postural tremor, 0002322: Resting tremor, 0007089: Faciolingual fasciculations Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2026-01-20 14:01:05 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.