Congenital unilateral hypoplasia of depressor anguli oris
ORPHA:1166Morphological anomalyAutosomal dominantNeonatal
Фенотипы (HPO)26
Очень частый (80–99%)2
HP:0000178Abnormality of lower lip
HP:0011333Asymmetric crying face
Частый (30–79%)15
HP:0000028Cryptorchidism
HP:0000076Vesicoureteral reflux
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000411Protruding ear
HP:0000776Congenital diaphragmatic hernia
HP:0001276Hypertonia
HP:0001387Joint stiffness
HP:0002093Respiratory insufficiency
HP:0002120Cerebral cortical atrophy
HP:0004322Short stature
HP:0005562Multiple renal cysts
HP:0008678Renal hypoplasia/aplasia
HP:0009804Tooth agenesis
Периодический (5–29%)9
HP:0001263Global developmental delay
HP:0001629Ventricular septal defect
HP:0001636Tetralogy of Fallot
HP:0001679Abnormal aortic morphology
HP:0002086Abnormality of the respiratory system
HP:0003272Abnormality of the hip bone
HP:0003422Vertebral segmentation defect
HP:0004414Abnormality of the pulmonary artery
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)