46,XX difference of sex development-anorectal anomalies syndrome
ORPHA:2973Malformation syndromeNeonatal
Фенотипы (HPO)15
Очень частый (80–99%)3
HP:0000812Abnormal internal genitalia
HP:0002023Anal atresia
HP:0010458Female pseudohermaphroditism
Частый (30–79%)7
HP:0000003Multicystic kidney dysplasia
HP:0000072Hydroureter
HP:0000126Hydronephrosis
HP:0000795Abnormality of the urethra
HP:0001562Oligohydramnios
HP:0002093Respiratory insufficiency
HP:0008678Renal hypoplasia/aplasia
Периодический (5–29%)5
HP:0002566Intestinal malrotation
HP:0002575Tracheoesophageal fistula
HP:0006501Aplasia/Hypoplasia of the radius
HP:0100627Displacement of the urethral meatus
HP:0100779Urogenital sinus anomaly
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)