Auriculocondylar Syndrome

Alias:
Dysgnathia Complex
Question Mark Ear Syndrome
Auriculo-Condylar Syndrome
Question-Mark Ear Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Auriculocondylar Syndrome, also known as dysgnathia complex, is related to auriculocondylar syndrome 1 and agnathia-otocephaly complex, and has symptoms including apnea and snoring. An important gene associated with Auriculocondylar Syndrome is PLCB4 (Phospholipase C Beta 4), and among its related pathways/superpathways are MIF Mediated Glucocorticoid Regulation and Phospholipase-C Pathway. Affiliated tissues include bone and skin, and related phenotypes are external ear malformation and mandibular condyle hypoplasia
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Basic Information

Inheritance
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Prevalence
Related Gene
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Reference
MALACARDS
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Unknown
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5
38
7

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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