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Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies (RHFCA)

Alias:
Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome
Craniosynostosis with Radiohumeral Fusions and Other Skeletal and Craniofacial Anomalies
Rhfca
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies, is also known as lethal occipital encephalocele-skeletal dysplasia syndrome. An important gene associated with Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies is CYP26B1 (Cytochrome P450 Family 26 Subfamily B Member 1). Affiliated tissues include bone, and related phenotypes are brachycephaly and arachnodactyly
Related ID：
MALACARDS：RDH004
OMIM：614416
MESH：D013580

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
11
1
RDH004

Medical Symptom

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

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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