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Buratti-Harel Syndrome (BURHAS)

Alias:
Burhas
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Buratti-Harel Syndrome, is also known as burhas. An important gene associated with Buratti-Harel Syndrome is SIAH1 (Siah E3 Ubiquitin Protein Ligase 1). Related phenotypes are hypertelorism and delayed speech and language development
Related ID：
MALACARDS：BRT061
OMIM：619314
MESH：D065886

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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2
11
2
BRT061

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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