Splenogonadal fusion-limb defects-micrognathia syndrome
ORPHA:2063Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)28
Очень частый (80–99%)9
HP:0000023Inguinal hernia
HP:0000951Abnormality of the skin
HP:0001385Hip dysplasia
HP:0001622Premature birth
HP:0002815Abnormality of the knee
HP:0002817Abnormality of the upper limb
HP:0002823Abnormality of femur morphology
HP:0002991Abnormal fibula morphology
HP:0003019Abnormality of the wrist
Частый (30–79%)4
HP:0000028Cryptorchidism
HP:0000347Micrognathia
HP:0100559Lower limb asymmetry
HP:0100560Upper limb asymmetry
Периодический (5–29%)15
HP:0000174Abnormal palate morphology
HP:0000189Narrow palate
HP:0000358Posteriorly rotated ears
HP:0000776Congenital diaphragmatic hernia
HP:0001250Seizure
HP:0001357Plagiocephaly
HP:0002023Anal atresia
HP:0002101Abnormal lung lobation
HP:0002269Abnormality of neuronal migration
HP:0006283Multiple unerupted teeth
HP:0006333Crowded maxillary incisors
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0009804Tooth agenesis
HP:0030680Abnormal cardiovascular system morphology
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)