47,XYY syndrome
ORPHA:8Malformation syndromeNot applicableAll ages
Фенотипы (HPO)45
Очень частый (80–99%)5
HP:0000098Tall stature
HP:0000272Malar flattening
HP:0000369Low-set ears
HP:0000750Delayed speech and language development
HP:0001270Motor delay
Частый (30–79%)16
HP:0012760Reduced social responsiveness
HP:0000256Macrocephaly
HP:0000316Hypertelorism
HP:0000708Atypical behavior
HP:0000752Hyperactivity
HP:0000805Enuresis
HP:0001249Intellectual disability
HP:0001319Neonatal hypotonia
HP:0001328Specific learning disability
HP:0001337Tremor
HP:0001763Pes planus
HP:0002099Asthma
HP:0007018Attention deficit hyperactivity disorder
HP:0007642Congenital stationary night blindness
HP:0040019Finger clinodactyly
HP:0100710Impulsivity
Периодический (5–29%)23
HP:0100033Tics
HP:0100851Abnormal emotion/affect behavior
HP:0000027Azoospermia
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000053Macroorchidism
HP:0000054Micropenis
HP:0000238Hydrocephalus
HP:0000303Mandibular prognathia
HP:0000729Autistic behavior
HP:0000739Anxiety
HP:0000798Oligozoospermia
HP:0000837Increased circulating gonadotropin level
HP:0001250Seizure
HP:0001572Macrodontia
HP:0002195Dysgenesis of the cerebellar vermis
HP:0002363Abnormal brainstem morphology
HP:0003251Male infertility
HP:0007033Cerebellar dysplasia
HP:0010865Oppositional defiant disorder
HP:0012871Varicocele
HP:0030088Increased serum testosterone level
HP:0040183Encopresis
Очень редкий (1–4%)1
HP:0008770Obsessive-compulsive trait
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Denmark | Class only |
| Prevalence at birth | 1-5 / 10 000 | 50 | Europe | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 14.1 | Denmark | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)