Ectodermal dysplasia-blindness syndrome
ORPHA:1806Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)25
Очень частый (80–99%)13
HP:0000164Abnormality of the dentition
HP:0000411Protruding ear
HP:0000446Narrow nasal bridge
HP:0000482Microcornea
HP:0000568Microphthalmia
HP:0000618Blindness
HP:0000647Sclerocornea
HP:0001131Corneal dystrophy
HP:0001249Intellectual disability
HP:0001999Abnormal facial shape
HP:0002167Abnormality of speech or vocalization
HP:0004322Short stature
HP:0008070Sparse hair
Периодический (5–29%)12
HP:0000365Hearing impairment
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0000518Cataract
HP:0000962Hyperkeratosis
HP:0000966Hypohidrosis
HP:0001000Abnormality of skin pigmentation
HP:0001097Keratoconjunctivitis sicca
HP:0001231Abnormal fingernail morphology
HP:0002205Recurrent respiratory infections
HP:0002213Fine hair
HP:0200042Skin ulcer
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)