Maternal phenylketonuria syndrome
ORPHA:2209Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)1
HP:0001627Abnormal heart morphology
Частый (30–79%)7
HP:0000252Microcephaly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0001680Coarctation of aorta
HP:0001999Abnormal facial shape
HP:0004383Hypoplastic left heart
Периодический (5–29%)11
HP:0000218High palate
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000752Hyperactivity
HP:0001250Seizure
HP:0001629Ventricular septal defect
HP:0001636Tetralogy of Fallot
HP:0001719Double outlet right ventricle
HP:0002079Hypoplasia of the corpus callosum
Очень редкий (1–4%)13
HP:0000286Epicanthus
HP:0000340Sloping forehead
HP:0000486Strabismus
HP:0000601Hypotelorism
HP:0001156Brachydactyly
HP:0001488Bilateral ptosis
HP:0002032Esophageal atresia
HP:0002836Bladder exstrophy
HP:0004411Deviated nasal septum
HP:0008589Hypoplastic helices
HP:0009611Bifid distal phalanx of the thumb
HP:0012210Abnormal renal morphology
HP:0030084Clinodactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only |
| Annual incidence | 1-5 / 10 000 | 10 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)