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 -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00168941 - - - M no Italy - - 0 - - 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 - - 0 - - 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 - 0 - - 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 - 0 - - 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 - 0 - - RMFSL in utero myoclonic spasms;neonatal-onset intractable focal seizures; congenital rigidity; dysautonomia (hypothermia, apnea, bradycardia, sids) BRAT1 BRAT1 1 1 LOVD
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