Oculocerebral hypopigmentation syndrome, Preus type
ORPHA:2720Malformation syndromeNeonatal
Фенотипы (HPO)26
Очень частый (80–99%)14
HP:0000218High palate
HP:0000365Hearing impairment
HP:0000639Nystagmus
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001931Hypochromic anemia
HP:0004322Short stature
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0007513Generalized hypopigmentation
HP:0007730Iris hypopigmentation
HP:0010978Abnormality of immune system physiology
HP:0011364White hair
Частый (30–79%)6
HP:0000238Hydrocephalus
HP:0001107Ocular albinism
HP:0001166Arachnodactyly
HP:0001874Abnormality of neutrophils
HP:0002363Abnormal brainstem morphology
HP:0010662Abnormality of the diencephalon
Периодический (5–29%)6
HP:0000091Abnormal renal tubule morphology
HP:0000518Cataract
HP:0000613Photophobia
HP:0001251Ataxia
HP:0003272Abnormality of the hip bone
HP:0004349Reduced bone mineral density
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)