Trisomy X syndrome
ORPHA:3375Malformation syndromeNot applicableChildhood, Infancy
Фенотипы (HPO)31
Очень частый (80–99%)1
HP:0002916Abnormality of chromosome segregation
Частый (30–79%)11
HP:0000098Tall stature
HP:0000286Epicanthus
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001328Specific learning disability
HP:0002019Constipation
HP:0002027Abdominal pain
HP:0004209Clinodactyly of the 5th finger
HP:0008947Floppy infant
HP:0100543Cognitive impairment
Периодический (5–29%)18
HP:0001382Joint hypermobility
HP:0000003Multicystic kidney dysplasia
HP:0000316Hypertelorism
HP:0000582Upslanted palpebral fissure
HP:0000716Depression
HP:0000739Anxiety
HP:0000767Pectus excavatum
HP:0000869Secondary amenorrhea
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001337Tremor
HP:0001385Hip dysplasia
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0002960Autoimmunity
HP:0007018Attention deficit hyperactivity disorder
HP:0008209Premature ovarian insufficiency
HP:0008678Renal hypoplasia/aplasia
Очень редкий (1–4%)1
HP:0000826Precocious puberty
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 42.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)