Blepharophimosis-intellectual disability syndrome, Ohdo type
ORPHA:2728Malformation syndromeNot applicableInfancy, Neonatal
Фенотипы (HPO)26
Очень частый (80–99%)22
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000093Proteinuria
HP:0000252Microcephaly
HP:0000356Abnormality of the outer ear
HP:0000365Hearing impairment
HP:0000403Recurrent otitis media
HP:0000508Ptosis
HP:0000568Microphthalmia
HP:0000581Blepharophimosis
HP:0000646Amblyopia
HP:0000685Hypoplasia of teeth
HP:0000687Widely spaced teeth
HP:0000691Microdontia
HP:0000750Delayed speech and language development
HP:0001018Abnormal palmar dermatoglyphics
HP:0001256Intellectual disability, mild
HP:0001270Motor delay
HP:0001511Intrauterine growth retardation
HP:0008551Microtia
HP:0008897Postnatal growth retardation
HP:0030148Heart murmur
Частый (30–79%)4
HP:0000175Cleft palate
HP:0001631Atrial septal defect
HP:0012619Multiple bladder diverticula
HP:0012768Neonatal asphyxia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)