Penoscrotal transposition
ORPHA:2842Morphological anomalyAutosomal recessive, Not applicable, X-linked recessiveInfancy, Neonatal
Фенотипы (HPO)20
Очень частый (80–99%)15
HP:0000047Hypospadias
HP:0000069Abnormality of the ureter
HP:0000078Abnormality of the genital system
HP:0000104Renal agenesis
HP:0000110Renal dysplasia
HP:0000347Micrognathia
HP:0000768Pectus carinatum
HP:0000795Abnormality of the urethra
HP:0000811Abnormal external genitalia
HP:0001638Cardiomyopathy
HP:0002120Cerebral cortical atrophy
HP:0004209Clinodactyly of the 5th finger
HP:0006610Wide intermamillary distance
HP:0007598Bilateral single transverse palmar creases
HP:0100600Penoscrotal transposition
Частый (30–79%)4
HP:0000049Shawl scrotum
HP:0000269Prominent occiput
HP:0000286Epicanthus
HP:0010751Chin dimple
Периодический (5–29%)1
HP:0006443Patellar aplasia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)