Orofaciodigital Syndrome Xi (OFD11)

Alias:
Ofd11
Oral-Facial-Digital Syndrome, Gabrielli Type
Orofaciodigital Syndrome, Gabrielli Type
Oral-Facial-Digital Syndrome Type 11
Orofaciodigital Syndrome Type 11
Orofaciodigital Syndrome 11
Oral-Facial-Digital Syndrome with Skeletal Anomalies
Oral-Facial-Digital Syndrome, Type Xi
Gabrielli Syndrome
Ofds Xi
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Orofaciodigital Syndrome Xi, also known as ofd11, is related to orofaciodigital syndrome and hypertelorism. Affiliated tissues include bone and heart, and related phenotypes are seizure and wide nasal bridge
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Newborn
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3

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
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