Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
ORPHA:2560Malformation syndromeNot applicableInfancy, Neonatal
Фенотипы (HPO)15
Очень частый (80–99%)15
HP:0000044Hypogonadotropic hypogonadism
HP:0000182Movement abnormality of the tongue
HP:0000298Mask-like facies
HP:0000486Strabismus
HP:0000544External ophthalmoplegia
HP:0001167Abnormality of finger
HP:0001252Hypotonia
HP:0001776Bilateral talipes equinovarus
HP:0002342Intellectual disability, moderate
HP:0002540Inability to walk
HP:0003477Peripheral axonal neuropathy
HP:0007108Demyelinating peripheral neuropathy
HP:0007209Facial paralysis
HP:0008000Decreased corneal reflex
HP:0045037Abnormality of jaw muscles
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)