Genitopatellar syndrome
ORPHA:85201Malformation syndromeAutosomal dominant, Autosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)19
HP:0000003Multicystic kidney dysplasia
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000126Hydronephrosis
HP:0000252Microcephaly
HP:0000280Coarse facial features
HP:0000426Prominent nasal bridge
HP:0000445Wide nose
HP:0000448Prominent nose
HP:0000946Hypoplastic ilia
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002804Arthrogryposis multiplex congenita
HP:0003175Hypoplastic ischia
HP:0003273Hip contracture
HP:0004279Short palm
HP:0006380Knee flexion contracture
HP:0006443Patellar aplasia
HP:0008665Clitoral hypertrophy
Частый (30–79%)11
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000684Delayed eruption of teeth
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001762Talipes equinovarus
HP:0002209Sparse scalp hair
HP:0002213Fine hair
Периодический (5–29%)8
HP:0000365Hearing impairment
HP:0001631Atrial septal defect
HP:0002020Gastroesophageal reflux
HP:0002089Pulmonary hypoplasia
HP:0002104Apnea
HP:0002974Radioulnar synostosis
HP:0004322Short stature
HP:0011968Feeding difficulties
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 22 | 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)