Disease #00921 (RMFSL (rigidity and multifocal seizure, lethal neonatal syndrome (RMFSL)), OMIM:614498)

Official abbreviation RMFSL
Name rigidity and multifocal seizure, lethal neonatal syndrome (RMFSL)
OMIM ID 614498
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene BRAT1
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00168941 - - - M no Italy - - - - - RMFSL neurodevelopmental delay, mild-moderate intellectual disability,congenital non-progressive ataxia, generalized hypotonia, decreased muscle strength and trophism, bilateral pes planus, severe dysarthria, strabismus and nystagmus, Moderate-severe sensorineural hearing loss, global cerebellar hypoplasia with enlarged interfolial spaces on brain MRI BRAT1 BRAT1 2 1 Enza Maria Valente
00168942 - - - M no Italy - - - - - RMFSL neurodevelopmental delay, mild-moderate intellectual disability,congenital non-progressive ataxia, generalized hypotonia, decreased muscle strength and trophism, bilateral pes planus, severe dysarthria, nystagmus, marked enlargement of cerebellar interfolial spaces on brain MRI BRAT1 BRAT1 2 1 Enza Maria Valente
00408973 2 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - - - - RMFSL in utero myoclonic spasms;neonatal-onset intractable focal seizures; congenital rigidity; dysautonomia (hypothermia, apnea, bradycardia, sids) BRAT1 BRAT1 1 1 LOVD
00408974 3 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - - - - RMFSL in utero myoclonic spasms;neonatal-onset intractable focal seizures; congenital rigidity; dysautonomia (hypothermia, apnea, bradycardia, sids) BRAT1 BRAT1 1 1 LOVD
00408975 4 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - - - - RMFSL in utero myoclonic spasms;neonatal-onset intractable focal seizures; congenital rigidity; dysautonomia (hypothermia, apnea, bradycardia, sids) BRAT1 BRAT1 1 1 LOVD
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.