Baller-Gerold Syndrome (BGS)

Alias:
Craniosynostosis-Radial Aplasia Syndrome
Craniosynostosis with Radial Defects
Bgs
Craniosynostosis Radial Aplasia Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Baller-Gerold Syndrome, also known as craniosynostosis-radial aplasia syndrome, is related to rapadilino syndrome and craniosynostosis 1. An important gene associated with Baller-Gerold Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways are Gene expression (Transcription) and Infectious disease. Affiliated tissues include bone and skin, and related phenotypes are frontal bossing and short stature
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
22
138
91

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
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IF
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