XY type gonadal dysgenesis-associated anomalies syndrome
ORPHA:1770Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)16
HP:0000069Abnormality of the ureter
HP:0000133Gonadal dysgenesis
HP:0000147Polycystic ovaries
HP:0000413Atresia of the external auditory canal
HP:0001156Brachydactyly
HP:0001176Large hands
HP:0001256Intellectual disability, mild
HP:0001537Umbilical hernia
HP:0001629Ventricular septal defect
HP:0002750Delayed skeletal maturation
HP:0004422Biparietal narrowing
HP:0004467Preauricular pit
HP:0007598Bilateral single transverse palmar creases
HP:0010720Abnormal hair pattern
HP:0011304Broad thumb
HP:0011342Mild global developmental delay
Частый (30–79%)10
HP:0000175Cleft palate
HP:0000286Epicanthus
HP:0000288Abnormality of the philtrum
HP:0000494Downslanted palpebral fissures
HP:0002000Short columella
HP:0004322Short stature
HP:0008551Microtia
HP:0008678Renal hypoplasia/aplasia
HP:0100335Non-midline cleft of the upper lip
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)