X-linked intellectual disability, Cilliers type
ORPHA:163971DiseaseX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)20
HP:0000026Male hypogonadism
HP:0000028Cryptorchidism
HP:0000336Prominent supraorbital ridges
HP:0000400Macrotia
HP:0000426Prominent nasal bridge
HP:0000490Deeply set eye
HP:0000815Hypergonadotropic hypogonadism
HP:0000837Increased circulating gonadotropin level
HP:0002750Delayed skeletal maturation
HP:0004209Clinodactyly of the 5th finger
HP:0001256Intellectual disability, mild
HP:0001508Failure to thrive
HP:0004322Short stature
HP:0001792Small nail
HP:0001999Abnormal facial shape
HP:0008187Absence of secondary sex characteristics
HP:0008734Decreased testicular size
HP:0004440Coronal craniosynostosis
HP:0040171Decreased serum testosterone concentration
HP:0200055Small hand
Частый (30–79%)1
HP:0000252Microcephaly
Периодический (5–29%)4
HP:0000047Hypospadias
HP:0000709Psychosis
HP:0011999Paranoia
HP:0100962Shyness
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 4 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)