MCID: SVR087
MIFTS: 9

Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to 5q31.3 Microdeletion

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to...

MalaCards integrated aliases for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to 5q31.3 Microdeletion:

Name: Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to 5q31.3 Microdeletion 56
5q31.3 Microdeletion Syndrome 56
Monosomy 5q31.3 56
Del(5)(q31.3) 56

Characteristics:

Orphanet epidemiological data:

56
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA314655
ICD10 via Orphanet 34 Q93.5

Summaries for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to...

MalaCards based summary : Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to 5q31.3 Microdeletion, also known as 5q31.3 microdeletion syndrome, is related to 5q31.3 microdeletion syndrome and encephalopathy. An important gene associated with Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to 5q31.3 Microdeletion is PURA (Purine Rich Element Binding Protein A).

Related Diseases for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to...

Diseases related to Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to 5q31.3 Microdeletion via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 5q31.3 microdeletion syndrome 12.4
2 encephalopathy 9.9
3 hypotonia 9.9

Symptoms & Phenotypes for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to...

Drugs & Therapeutics for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to...

Search Clinical Trials , NIH Clinical Center for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to 5q31.3 Microdeletion

Genetic Tests for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to...

Anatomical Context for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to...

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Expression for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to...

Search GEO for disease gene expression data for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to 5q31.3 Microdeletion.

Pathways for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to...

GO Terms for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to...

Sources for Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to...

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7 CNVD
9 Cosmic
10 dbSNP
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