Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
ORPHA:2250DiseaseAutosomal dominant, UnknownAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)14
HP:0000518Cataract
HP:0000692Tooth malposition
HP:0003241External genital hypoplasia
HP:0004409Hyposmia
HP:0006352Failure of eruption of permanent teeth
HP:0008736Hypoplasia of penis
HP:0009927Aplasia of the nose
HP:0009932Single naris
HP:0040326Hypoplasia of the olfactory bulb
HP:0100596Absent nares
HP:0000023Inguinal hernia
HP:0000135Hypogonadism
HP:0000309Abnormal midface morphology
HP:0000458Anosmia
Частый (30–79%)13
HP:0000028Cryptorchidism
HP:0000044Hypogonadotropic hypogonadism
HP:0000327Hypoplasia of the maxilla
HP:0000453Choanal atresia
HP:0000528Anophthalmia
HP:0000568Microphthalmia
HP:0000572Visual loss
HP:0000612Iris coloboma
HP:0000618Blindness
HP:0000646Amblyopia
HP:0000771Gynecomastia
HP:0009023Abdominal wall muscle weakness
HP:0009924Aplasia/Hypoplasia involving the nose
Периодический (5–29%)5
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000193Bifid uvula
HP:0000648Optic atrophy
HP:0030752Dacryocystocele
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)