Oliver syndrome
ORPHA:2920Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)2
HP:0001162Postaxial hand polydactyly
HP:0002187Intellectual disability, profound
Частый (30–79%)7
HP:0000303Mandibular prognathia
HP:0001344Absent speech
HP:0001830Postaxial foot polydactyly
HP:0001831Short toe
HP:0002069Bilateral tonic-clonic seizure
HP:0002465Poor speech
HP:0010554Cutaneous finger syndactyly
Периодический (5–29%)16
HP:0000218High palate
HP:0000252Microcephaly
HP:0000322Short philtrum
HP:0000385Small earlobe
HP:0000387Absent earlobe
HP:0000574Thick eyebrow
HP:0000689Dental malocclusion
HP:0001212Prominent fingertip pads
HP:0001511Intrauterine growth retardation
HP:0001812Hyperconvex fingernails
HP:0002558Supernumerary nipple
HP:0002650Scoliosis
HP:0002987Elbow flexion contracture
HP:0004209Clinodactyly of the 5th finger
HP:0006380Knee flexion contracture
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)