Blepharophimosis-intellectual disability syndrome, Verloes type
ORPHA:293725Malformation syndromeUnknownAntenatal, Infancy, Neonatal
Фенотипы (HPO)32
Частый (30–79%)9
HP:0000581Blepharophimosis
HP:0001181Adducted thumb
HP:0001250Seizure
HP:0002521Hypsarrhythmia
HP:0008947Floppy infant
HP:0010864Intellectual disability, severe
HP:0011343Moderate global developmental delay
HP:0011451Congenital microcephaly
HP:0100587Abnormality of the preputium
Периодический (5–29%)23
HP:0000185Cleft soft palate
HP:0000278Retrognathia
HP:0000293Full cheeks
HP:0000311Round face
HP:0000319Smooth philtrum
HP:0000322Short philtrum
HP:0000358Posteriorly rotated ears
HP:0000391Thickened helices
HP:0000395Prominent antihelix
HP:0000414Bulbous nose
HP:0000437Depressed nasal tip
HP:0000448Prominent nose
HP:0000807Glandular hypospadias
HP:0001562Oligohydramnios
HP:0002190Choroid plexus cyst
HP:0002339Abnormal caudate nucleus morphology
HP:0005274Prominent nasal tip
HP:0006191Deep palmar crease
HP:0006956Dilation of lateral ventricles
HP:0006970Periventricular leukomalacia
HP:0009928Thick nasal alae
HP:0010761Broad columella
HP:0011251Underdeveloped antitragus
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)