Deaf blind hypopigmentation syndrome, Yemenite type
ORPHA:3214Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)22
Очень частый (80–99%)10
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0000684Delayed eruption of teeth
HP:0000953Hyperpigmentation of the skin
HP:0001053Hypopigmented skin patches
HP:0001480Freckling
HP:0001572Macrodontia
HP:0005599Hypopigmentation of hair
HP:0007565Multiple cafe-au-lait spots
Частый (30–79%)7
HP:0000322Short philtrum
HP:0000348High forehead
HP:0000482Microcornea
HP:0000612Iris coloboma
HP:0001288Gait disturbance
HP:0007730Iris hypopigmentation
HP:0011483Anterior synechiae of the anterior chamber
Периодический (5–29%)5
HP:0000679Taurodontia
HP:0001276Hypertonia
HP:0002705High, narrow palate
HP:0008499High hypermetropia
HP:0200007Abnormal size of the palpebral fissures
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)