X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
ORPHA:3055Malformation syndromeX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)18
Очень частый (80–99%)13
HP:0000358Posteriorly rotated ears
HP:0000028Cryptorchidism
HP:0000486Strabismus
HP:0000506Telecanthus
HP:0000708Atypical behavior
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001513Obesity
HP:0001608Abnormality of the voice
HP:0004322Short stature
HP:0008736Hypoplasia of penis
HP:0010468Aplasia/Hypoplasia of the testes
Частый (30–79%)1
HP:0008064Ichthyosis
Периодический (5–29%)4
HP:0000639Nystagmus
HP:0000964Eczematoid dermatitis
HP:0000992Cutaneous photosensitivity
HP:0004299Hernia of the abdominal wall
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)