Isolated Pierre Robin Syndrome

Alias:
Isolated Pierre Robin Sequence
Isolated Pierre-Robin Syndrome
Glossoptosis, Micrognathia, and Cleft Palate
Pierre Robin Syndrome
Pierre-Robin Syndrome
Robin Sequence
Robin Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Isolated Pierre Robin Syndrome, also known as isolated pierre robin sequence, is related to pierre robin syndrome and rare disease with pierre robin syndrome. An important gene associated with Isolated Pierre Robin Syndrome is EBF3 (EBF Transcription Factor 3). The drugs Temazepam and D-Threonine have been mentioned in the context of this disorder. Affiliated tissues include tongue and bone, and related phenotypes are cleft palate and micrognathia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
1-9/100000
5
55
5

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
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Publications
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References Literature

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IF
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