Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
ORPHA:2234Malformation syndromeUnknownNeonatal
Фенотипы (HPO)19
Очень частый (80–99%)12
HP:0000046Small scrotum
HP:0000135Hypogonadism
HP:0000144Decreased fertility
HP:0000708Atypical behavior
HP:0000771Gynecomastia
HP:0001249Intellectual disability
HP:0002937Hemivertebrae
HP:0003312Abnormal form of the vertebral bodies
HP:0003782Eunuchoid habitus
HP:0005978Type II diabetes mellitus
HP:0008734Decreased testicular size
HP:0008736Hypoplasia of penis
Частый (30–79%)7
HP:0000470Short neck
HP:0000772Abnormal rib morphology
HP:0000820Abnormality of the thyroid gland
HP:0001513Obesity
HP:0002231Sparse body hair
HP:0004322Short stature
HP:0100745Abnormality of the humeroulnar joint
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)