Global Variome shared LOVD

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

Phenotype #0000082426 Individual ID 00104494 Associated disease MYOP Phenotype details congenital hypotonia and weakness with sparing of ocular muscles, prominent neck weakness, scoliosis, nocturnal BiPAP support. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Tom Winder Database submission license No license selected Created by Tom Winder Date created 2014-09-25 20:54:58 +02:00 (CEST) Date last edited 2017-05-12 14:47:03 +02:00 (CEST)

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