MCID: RGD002

Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal malady

Summaries for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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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).

Description from OMIM:46 614498

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 46


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 Name 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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Expression patterns in normal tissues for genes affiliated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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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  • Antibodies
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Sources for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet