X-linked intellectual disability, Van Esch type
ORPHA:163976Malformation syndromeX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)21
Очень частый (80–99%)17
HP:0000026Male hypogonadism
HP:0000028Cryptorchidism
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000815Hypergonadotropic hypogonadism
HP:0002750Delayed skeletal maturation
HP:0001256Intellectual disability, mild
HP:0001508Failure to thrive
HP:0004322Short stature
HP:0001511Intrauterine growth retardation
HP:0005978Type II diabetes mellitus
HP:0007018Attention deficit hyperactivity disorder
HP:0008187Absence of secondary sex characteristics
HP:0008551Microtia
HP:0008734Decreased testicular size
HP:0012646Retractile testis
HP:0012760Reduced social responsiveness
Частый (30–79%)2
HP:0000837Increased circulating gonadotropin level
HP:0040171Decreased serum testosterone concentration
Периодический (5–29%)2
HP:0004209Clinodactyly of the 5th finger
HP:0004440Coronal craniosynostosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 7 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)