Global Variome shared LOVD

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

Phenotype #0000292050 Individual ID 00398961 Associated disease MYOP Phenotype details newborn hypotonia; 2y6m-walk, run; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, no distal weaknessfisrt year gastronomy; 11y-no cardiac involvement Diagnosis/Initial congenital myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 1d Phenotype/Onset newborn hypotonia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-01-14 16:20:15 +01:00 (CET) Date last edited N/A

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