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Oculomaxillofacial Dysostosis

Alias:
Richieri-Costa-Gorlin Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Oculomaxillofacial Dysostosis, also known as richieri-costa-gorlin syndrome, is related to facial clefting, oblique, 1 and oblique facial cleft. An important gene associated with Oculomaxillofacial Dysostosis is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like). Affiliated tissues include bone and eye, and related phenotypes are corneal opacity and abnormality of the dentition
Related ID：
MALACARDS：OCL040

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
1
11
1
OCL040

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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