Bangstad syndrome
ORPHA:1227Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)21
Очень частый (80–99%)21
HP:0000035Abnormal testis morphology
HP:0000147Polycystic ovaries
HP:0000164Abnormality of the dentition
HP:0000252Microcephaly
HP:0000275Narrow face
HP:0000340Sloping forehead
HP:0000444Convex nasal ridge
HP:0000490Deeply set eye
HP:0000821Hypothyroidism
HP:0000828Abnormality of the parathyroid gland
HP:0000842Hyperinsulinemia
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001511Intrauterine growth retardation
HP:0002353EEG abnormality
HP:0003118Increased circulating cortisol level
HP:0004097Deviation of finger
HP:0004322Short stature
HP:0008193Primary gonadal insufficiency
HP:0100651Type I diabetes mellitus
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)