Microtia
ORPHA:83463Morphological anomalyAutosomal dominant, Autosomal recessive, Not applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)9
Облигатный (100%)1
HP:0008551Microtia
Очень частый (80–99%)1
HP:0040119Unilateral conductive hearing impairment
Частый (30–79%)5
HP:0000377Abnormal pinna morphology
HP:0000413Atresia of the external auditory canal
HP:0000750Delayed speech and language development
HP:0008589Hypoplastic helices
HP:0009892Anotia
Периодический (5–29%)2
HP:0001360Holoprosencephaly
HP:0007018Attention deficit hyperactivity disorder
Эпидемиология17
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 38 | Specific population | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 13 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
| Prevalence at birth | 1-5 / 10 000 | 15.5 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 3.7 | France | Value and class |
| Point prevalence | 1-9 / 100 000 | — | France | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.2 | Italy | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Italy | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.1 | Sweden | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Sweden | Class only |
| Prevalence at birth | 1-5 / 10 000 | 22 | United States | Value and class |
| Point prevalence | 1-5 / 10 000 | — | United States | Class only |
| Prevalence at birth | 1-5 / 10 000 | 43.4 | Finland | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Finland | Class only |
| Prevalence at birth | >1 / 1000 | 174 | Ecuador | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 83 | Chile | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)