Holoprosencephaly-radial heart renal anomalies syndrome
ORPHA:3186Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)27
Очень частый (80–99%)5
HP:0000252Microcephaly
HP:0000356Abnormality of the outer ear
HP:0000413Atresia of the external auditory canal
HP:0001360Holoprosencephaly
HP:0009927Aplasia of the nose
Частый (30–79%)7
HP:0000202Orofacial cleft
HP:0000568Microphthalmia
HP:0002984Hypoplasia of the radius
HP:0003022Hypoplasia of the ulna
HP:0003422Vertebral segmentation defect
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0011467Absent gallbladder
Периодический (5–29%)15
HP:0000161Median cleft lip
HP:0000365Hearing impairment
HP:0000601Hypotelorism
HP:0000612Iris coloboma
HP:0000921Missing ribs
HP:0001539Omphalocele
HP:0001636Tetralogy of Fallot
HP:0001829Foot polydactyly
HP:0002269Abnormality of neuronal migration
HP:0002623Overriding aorta
HP:0008678Renal hypoplasia/aplasia
HP:0009829Phocomelia
HP:0009914Cyclopia
HP:0100542Abnormal localization of kidney
HP:0031095Abnormal humerus morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)