Oculocerebral hypopigmentation syndrome, Cross type
ORPHA:2719Malformation syndromeNeonatal
Фенотипы (HPO)45
Очень частый (80–99%)4
HP:0000174Abnormal palate morphology
HP:0000963Thin skin
HP:0001249Intellectual disability
HP:0004322Short stature
Частый (30–79%)27
HP:0000028Cryptorchidism
HP:0000160Narrow mouth
HP:0000268Dolichocephaly
HP:0000463Anteverted nares
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0000518Cataract
HP:0000639Nystagmus
HP:0000656Ectropion
HP:0000691Microdontia
HP:0001107Ocular albinism
HP:0001166Arachnodactyly
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001347Hyperreflexia
HP:0001376Limitation of joint mobility
HP:0001510Growth delay
HP:0001903Anemia
HP:0002071Abnormality of extrapyramidal motor function
HP:0002353EEG abnormality
HP:0002510Spastic tetraplegia
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0007256Abnormal pyramidal sign
HP:0007957Corneal opacity
HP:0008056Aplasia/Hypoplasia affecting the eye
HP:0100022Abnormality of movement
Периодический (5–29%)14
HP:0000023Inguinal hernia
HP:0000071Ureteral stenosis
HP:0000079Abnormality of the urinary system
HP:0000252Microcephaly
HP:0000407Sensorineural hearing impairment
HP:0000545Myopia
HP:0001139Choroideremia
HP:0001172Abnormal thumb morphology
HP:0001305Dandy-Walker malformation
HP:0001608Abnormality of the voice
HP:0002305Athetosis
HP:0005561Abnormality of bone marrow cell morphology
HP:0005599Hypopigmentation of hair
HP:0007730Iris hypopigmentation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | 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)