Oculocerebrocutaneous syndrome
ORPHA:1647Malformation syndromeNot applicableNeonatal
Фенотипы (HPO)40
Очень частый (80–99%)9
HP:0000384Preauricular skin tag
HP:0000508Ptosis
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001321Cerebellar hypoplasia
HP:0002126Polymicrogyria
HP:0002334Abnormality of the cerebellar vermis
HP:0008065Aplasia/Hypoplasia of the skin
HP:0010609Skin tags
Частый (30–79%)10
HP:0000028Cryptorchidism
HP:0000238Hydrocephalus
HP:0000625Eyelid coloboma
HP:0000772Abnormal rib morphology
HP:0001053Hypopigmented skin patches
HP:0001362Skull defect
HP:0001596Alopecia
HP:0002119Ventriculomegaly
HP:0004374Hemiplegia/hemiparesis
HP:0007370Aplasia/Hypoplasia of the corpus callosum
Периодический (5–29%)21
HP:0000154Wide mouth
HP:0000202Orofacial cleft
HP:0000316Hypertelorism
HP:0000365Hearing impairment
HP:0000612Iris coloboma
HP:0000639Nystagmus
HP:0000776Congenital diaphragmatic hernia
HP:0000921Missing ribs
HP:0001161Hand polydactyly
HP:0001231Abnormal fingernail morphology
HP:0001260Dysarthria
HP:0001305Dandy-Walker malformation
HP:0001374Congenital hip dislocation
HP:0001883Talipes
HP:0002006Facial cleft
HP:0006101Finger syndactyly
HP:0007957Corneal opacity
HP:0009882Short distal phalanx of finger
HP:0010185Aplasia/Hypoplasia of the distal phalanges of the toes
HP:0100777Exostoses
HP:0000377Abnormal pinna morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 38 | 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)