Global Variome shared LOVD

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

Phenotype #0000332027 Individual ID 00442680 Associated disease NMD Diagnosis/Initial Distal muscle weakness Diagnosis/Definite - Phenotype details Diffuse muscle weakness (neonatal hypotonia), ptosis and muscle contractions (especially at the fingers) with respiratory insufficiency; muscle biopsy: dystrophic with mild neurogenic properties; CK = 65 U/l Inheritance Familial, autosomal recessive Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset 0y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-23 18:48:51 +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.