Genitopalatocardiac syndrome
ORPHA:2075Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)8
HP:0000037Male pseudohermaphroditism
HP:0000175Cleft palate
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0001511Intrauterine growth retardation
HP:0001671Abnormal cardiac septum morphology
HP:0030680Abnormal cardiovascular system morphology
HP:0100335Non-midline cleft of the upper lip
Частый (30–79%)4
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000494Downslanted palpebral fissures
HP:0008668Gonadal dysgenesis, male
Периодический (5–29%)13
HP:0000003Multicystic kidney dysplasia
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000431Wide nasal bridge
HP:0000776Congenital diaphragmatic hernia
HP:0001156Brachydactyly
HP:0001162Postaxial hand polydactyly
HP:0002650Scoliosis
HP:0002714Downturned corners of mouth
HP:0002808Kyphosis
HP:0005264Abnormality of the gallbladder
HP:0100016Abnormality of mesentery morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)