MCID: RGD002
MIFTS: 12

Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal malady

Genetic diseases (common) category

Summaries for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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OMIM:47 Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy... (614498) more...

MalaCards based summary: Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal and has symptoms including autosomal recessive inheritance, seizures and global developmental delay. An important gene associated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal is BRAT1 (BRCA1-associated ATM activator 1).

Aliases & Classifications for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal, Aliases & Descriptions:

Name: Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 47 11


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM47 614498

Related Diseases for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Symptoms for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Symptoms by clinical synopsis from OMIM:

614498

Clinical features from OMIM:

614498

HPO human phenotypes related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

(show all 10)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 seizures HP:0001250
3 global developmental delay HP:0001263
4 bradycardia HP:0001662
5 rigidity HP:0002063
6 apnea HP:0002104
7 gliosis HP:0002171
8 dysautonomia HP:0002459
9 neuronal loss in central nervous system HP:0002529
10 myoclonic spasms HP:0003739

Drugs & Therapeutics for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Drug clinical trials:

Search ClinicalTrials for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Search NIH Clinical Center for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Genetic Tests for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Anatomical Context for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Animal Models for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal or affiliated genes

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Publications for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Variations for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Clinvar genetic disease variations for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

7
id Gene Variation Type Significance SNP ID Assembly Location
1BRAT1BRAT1, 1-BP INS, 638AinsertionPathogenic

Expression for genes affiliated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Search GEO for disease gene expression data for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal.

Pathways for genes affiliated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Compounds for genes affiliated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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GO Terms for genes affiliated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Products for genes affiliated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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Sources for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet