48,XXYY syndrome
ORPHA:10Malformation syndromeNot applicable, UnknownAdolescent, Childhood, Infancy, Neonatal
Фенотипы (HPO)61
Очень частый (80–99%)7
HP:0000027Azoospermia
HP:0000789Infertility
HP:0000815Hypergonadotropic hypogonadism
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002167Abnormality of speech or vocalization
HP:0008734Decreased testicular size
Частый (30–79%)31
HP:0001382Joint hypermobility
HP:0000098Tall stature
HP:0000179Thick lower lip vermilion
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000389Chronic otitis media
HP:0000486Strabismus
HP:0000581Blepharophimosis
HP:0000582Upslanted palpebral fissure
HP:0000670Carious teeth
HP:0000679Taurodontia
HP:0000682Abnormality of dental enamel
HP:0000684Delayed eruption of teeth
HP:0000716Depression
HP:0000739Anxiety
HP:0000771Gynecomastia
HP:0001252Hypotonia
HP:0001337Tremor
HP:0001513Obesity
HP:0001763Pes planus
HP:0002019Constipation
HP:0002099Asthma
HP:0002205Recurrent respiratory infections
HP:0002974Radioulnar synostosis
HP:0003042Elbow dislocation
HP:0003043Abnormality of the shoulder
HP:0004209Clinodactyly of the 5th finger
HP:0005469Flat occiput
HP:0007018Attention deficit hyperactivity disorder
HP:0008872Feeding difficulties in infancy
HP:0010807Open bite
Периодический (5–29%)23
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0000276Long face
HP:0000324Facial asymmetry
HP:0000639Nystagmus
HP:0000709Psychosis
HP:0000717Autism
HP:0000733Abnormal repetitive mannerisms
HP:0001250Seizure
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001385Hip dysplasia
HP:0001883Talipes
HP:0002020Gastroesophageal reflux
HP:0002104Apnea
HP:0002119Ventriculomegaly
HP:0002650Scoliosis
HP:0002665Lymphoma
HP:0005978Type II diabetes mellitus
HP:0008736Hypoplasia of penis
HP:0012802Broad jaw
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.9 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)