49,XXXYY syndrome
ORPHA:261534Malformation syndromeNeonatal
Фенотипы (HPO)34
Очень частый (80–99%)34
HP:0000026Male hypogonadism
HP:0000054Micropenis
HP:0000062Ambiguous genitalia
HP:0000286Epicanthus
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0000744Low frustration tolerance
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0000771Gynecomastia
HP:0000774Narrow chest
HP:0003241External genital hypoplasia
HP:0000837Increased circulating gonadotropin level
HP:0002750Delayed skeletal maturation
HP:0001249Intellectual disability
HP:0001776Bilateral talipes equinovarus
HP:0001999Abnormal facial shape
HP:0002119Ventriculomegaly
HP:0002500Abnormal cerebral white matter morphology
HP:0002788Recurrent upper respiratory tract infections
HP:0003782Eunuchoid habitus
HP:0008193Primary gonadal insufficiency
HP:0008734Decreased testicular size
HP:0010506Abnormal plantar dermatoglyphics
HP:0011220Prominent forehead
HP:0011343Moderate global developmental delay
HP:0040019Finger clinodactyly
HP:0040171Decreased serum testosterone concentration
HP:0045058Abnormality of the testis size
HP:0000358Posteriorly rotated ears
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)