48,XYYY syndrome
ORPHA:99329Malformation syndromeAntenatal, Infancy, Neonatal
Фенотипы (HPO)31
Очень частый (80–99%)31
HP:0000026Male hypogonadism
HP:0000027Azoospermia
HP:0000098Tall stature
HP:0000179Thick lower lip vermilion
HP:0000218High palate
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000470Short neck
HP:0000708Atypical behavior
HP:0000718Aggressive behavior
HP:0000744Low frustration tolerance
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0012210Abnormal renal morphology
HP:0001061Acne
HP:0001249Intellectual disability
HP:0001256Intellectual disability, mild
HP:0001760Abnormal foot morphology
HP:0001763Pes planus
HP:0002099Asthma
HP:0002788Recurrent upper respiratory tract infections
HP:0002974Radioulnar synostosis
HP:0003083Dislocated radial head
HP:0005280Depressed nasal bridge
HP:0006297Enamel hypoplasia
HP:0006316Irregularly spaced teeth
HP:0007477Abnormal dermatoglyphics
HP:0008193Primary gonadal insufficiency
HP:0011968Feeding difficulties
HP:0100710Impulsivity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)