Auriculocondylar Syndrome

Auriculocondylar Syndrome(来自ICD-11)
别称:
Dysgnathia Complex
Question Mark Ear Syndrome
Auriculo-Condylar Syndrome
Question-Mark Ear Syndrome
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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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MALACARDS
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