Donnai-Barrow syndrome
ORPHA:2143Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)13
HP:0000093Proteinuria
HP:0000260Wide anterior fontanel
HP:0000316Hypertelorism
HP:0000349Widow's peak
HP:0000358Posteriorly rotated ears
HP:0000407Sensorineural hearing impairment
HP:0000494Downslanted palpebral fissures
HP:0000545Myopia
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0007370Aplasia/Hypoplasia of the corpus callosum
Частый (30–79%)8
HP:0000256Macrocephaly
HP:0000337Broad forehead
HP:0000520Proptosis
HP:0000529Progressive visual loss
HP:0000541Retinal detachment
HP:0000776Congenital diaphragmatic hernia
HP:0001537Umbilical hernia
HP:0001539Omphalocele
Периодический (5–29%)7
HP:0000130Abnormality of the uterus
HP:0000556Retinal dystrophy
HP:0000612Iris coloboma
HP:0000813Bicornuate uterus
HP:0001250Seizure
HP:0001629Ventricular septal defect
HP:0002566Intestinal malrotation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | 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)