Global Variome shared LOVD

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

Phenotype #0000084481 Individual ID 00106684 Associated disease MYOP Phenotype details Fraternal twins described by Donkervoort et al 2017 with cytoplasmic body myopathy. Both twins had evidence of facial weakness, generalized hypotonia with marked head lag, and severe weakness with only minimal movements of the fingers and toes. Extraocular movements were normal Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Kristen Nowak Database submission license No license selected Created by Kristen Nowak Date created 2017-07-09 05:50:47 +02:00 (CEST) Date last edited N/A

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