Global Variome shared LOVD

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

Phenotype #0000156582 Individual ID 00036576 Associated disease ? Diagnosis/Initial CPEO Diagnosis/Definite - Phenotype details ptosis and mild CPEO; suspected autosomal dominant inheritance, sister of index ptosis, mild tetraparesis and white matter lesions in cMRT,father of index and his sister affected with CPEO; other patient: neonatal myoklonic seizures Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2015-04-02 13:01:39 +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.