X-linked intellectual disability-psychosis-macroorchidism syndrome
ORPHA:3077Malformation syndromeX-linked dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)7
HP:0006801Hyperactive deep tendon reflexes
HP:0000053Macroorchidism
HP:0000718Aggressive behavior
HP:0000737Irritability
HP:0000752Hyperactivity
HP:0001250Seizure
HP:0002360Sleep abnormality
Частый (30–79%)11
HP:0001337Tremor
HP:0001635Congestive heart failure
HP:0002039Anorexia
HP:0002061Lower limb spasticity
HP:0002342Intellectual disability, moderate
HP:0002395Lower limb hyperreflexia
HP:0004322Short stature
HP:0007302Bipolar affective disorder
HP:0010864Intellectual disability, severe
HP:0011188Focal EEG discharges with secondary generalization
HP:0000718Aggressive behavior
Периодический (5–29%)9
HP:0001297Stroke
HP:0001300Parkinsonism
HP:0001513Obesity
HP:0002136Broad-based gait
HP:0002322Resting tremor
HP:0002362Shuffling gait
HP:0002751Kyphoscoliosis
HP:0025403Stooped posture
HP:0100852Abnormal fear/anxiety-related behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)