Global Variome shared LOVD

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

Phenotype #0000301091 Individual ID 00408973 Associated disease RMFSL Phenotype details in utero myoclonic spasms;neonatal-onset intractable focal seizures; congenital rigidity; dysautonomia (hypothermia, apnea, bradycardia, sids) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite syndrome, rigidity and multifocal seizure, lethal neonatal (RMFSL) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-29 17:32:37 +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.