Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
ORPHA:1352Malformation syndromeNeonatal
Фенотипы (HPO)22
Очень частый (80–99%)5
HP:0000252Microcephaly
HP:0000581Blepharophimosis
HP:0001107Ocular albinism
HP:0001511Intrauterine growth retardation
HP:0001671Abnormal cardiac septum morphology
Частый (30–79%)17
HP:0000119Abnormality of the genitourinary system
HP:0000347Micrognathia
HP:0000364Hearing abnormality
HP:0000378Cupped ear
HP:0000431Wide nasal bridge
HP:0000486Strabismus
HP:0000568Microphthalmia
HP:0000582Upslanted palpebral fissure
HP:0001336Myoclonus
HP:0001545Anteriorly placed anus
HP:0002023Anal atresia
HP:0003022Hypoplasia of the ulna
HP:0003974Absent radius
HP:0004209Clinodactyly of the 5th finger
HP:0008551Microtia
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0010035Aplasia of the 1st metacarpal
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)