Facial Clefting, Oblique, 1 (OBLFC1)

Alias:
Oculomaxillofacial Dysplasia with Oblique Facial Clefts
Tessier Number 4 Facial Cleft
Oculomaxillofacial Dysostosis
Oblique Facial Clefting 1
Oblfc1
Facial Clefting, Oblique, Type 1
Oblique Facial Cleft
Orbitofacial Cleft
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Facial Clefting, Oblique, 1, also known as oculomaxillofacial dysplasia with oblique facial clefts, is related to oculomaxillofacial dysostosis and oblique facial cleft. An important gene associated with Facial Clefting, Oblique, 1 is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like). Affiliated tissues include eye and cortex, and related phenotypes are deep palmar crease and coloboma
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
6
28
4

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

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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
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IF
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