Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
ORPHA:73246Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)12
HP:0000003Multicystic kidney dysplasia
HP:0000278Retrognathia
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0001263Global developmental delay
HP:0001770Toe syndactyly
HP:0002019Constipation
HP:0002514Cerebral calcification
HP:0004389Intestinal pseudo-obstruction
HP:0010956Fetal megacystis
Частый (30–79%)13
HP:0000028Cryptorchidism
HP:0000252Microcephaly
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000508Ptosis
HP:0001166Arachnodactyly
HP:0001252Hypotonia
HP:0001511Intrauterine growth retardation
HP:0001601Laryngomalacia
HP:0004279Short palm
HP:0006101Finger syndactyly
HP:0007678Lacrimal duct stenosis
HP:0045075Sparse eyebrow
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)