Tetragametic chimerism syndrome
ORPHA:199310Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)18
Очень частый (80–99%)16
HP:0000028Cryptorchidism
HP:0000035Abnormal testis morphology
HP:0000045Abnormality of the scrotum
HP:0000048Bifid scrotum
HP:0000051Perineal hypospadias
HP:0000054Micropenis
HP:0000062Ambiguous genitalia
HP:0000137Abnormality of the ovary
HP:0001053Hypopigmented skin patches
HP:0008665Clitoral hypertrophy
HP:0008723Gonadal dysgenesis with female appearance, male
HP:0010459True hermaphroditism
HP:0010970Blood group antigen abnormality
HP:0010987Abnormal cellular immune system morphology
HP:0012145Abnormality of multiple cell lineages in the bone marrow
HP:0012861Ovotestis
Частый (30–79%)1
HP:0000954Single transverse palmar crease
Исключён (0%)1
HP:0001263Global developmental delay
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)