Branchiootic syndrome
ORPHA:52429Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены2
Фенотипы (HPO)16
Очень частый (80–99%)2
HP:0004467Preauricular pit
HP:0000365Hearing impairment
Частый (30–79%)7
HP:0000356Abnormality of the outer ear
HP:0000359Abnormality of the inner ear
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0008609Morphological abnormality of the middle ear
HP:0009795Branchial fistula
Периодический (5–29%)7
HP:0000324Facial asymmetry
HP:0000347Micrognathia
HP:0000384Preauricular skin tag
HP:0010628Facial palsy
HP:0000175Cleft palate
HP:0000614Abnormal nasolacrimal system morphology
HP:0100267Lip pit
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)