Branchiogenic deafness syndrome
ORPHA:50815Malformation syndromeAutosomal dominantAntenatal, Neonatal
Фенотипы (HPO)21
Очень частый (80–99%)18
HP:0000377Abnormal pinna morphology
HP:0000384Preauricular skin tag
HP:0000396Overfolded helix
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000410Mixed hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0004322Short stature
HP:0004452Abnormality of the middle ear ossicles
HP:0004467Preauricular pit
HP:0008774Aplasia/Hypoplasia of the inner ear
HP:0009795Branchial fistula
HP:0009796Branchial cyst
HP:0009839Osteolytic defects of the distal phalanges of the hand
HP:0009882Short distal phalanx of finger
HP:0011272Underdeveloped tragus
Частый (30–79%)3
HP:0000175Cleft palate
HP:0001328Specific learning disability
HP:0007427Reticulated skin pigmentation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)