Opitz GBBB syndrome
ORPHA:2745Malformation syndromeX-linked recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)75
Очень частый (80–99%)4
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000431Wide nasal bridge
HP:0011220Prominent forehead
Частый (30–79%)16
HP:0000047Hypospadias
HP:0000175Cleft palate
HP:0000349Widow's peak
HP:0000463Anteverted nares
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0000736Short attention span
HP:0001249Intellectual disability
HP:0001273Abnormal corpus callosum morphology
HP:0001328Specific learning disability
HP:0001999Abnormal facial shape
HP:0002119Ventriculomegaly
HP:0004322Short stature
HP:0008751Laryngeal cleft
HP:0012758Neurodevelopmental delay
HP:0410030Cleft lip
Периодический (5–29%)46
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000048Bifid scrotum
HP:0000049Shawl scrotum
HP:0000076Vesicoureteral reflux
HP:0000079Abnormality of the urinary system
HP:0000119Abnormality of the genitourinary system
HP:0000126Hydronephrosis
HP:0000218High palate
HP:0000239Large fontanelles
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000494Downslanted palpebral fissures
HP:0000729Autistic behavior
HP:0000776Congenital diaphragmatic hernia
HP:0001274Agenesis of corpus callosum
HP:0001305Dandy-Walker malformation
HP:0001363Craniosynostosis
HP:0001537Umbilical hernia
HP:0001539Omphalocele
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001655Patent foramen ovale
HP:0001680Coarctation of aorta
HP:0002015Dysphagia
HP:0002023Anal atresia
HP:0002079Hypoplasia of the corpus callosum
HP:0002100Recurrent aspiration pneumonia
HP:0002465Poor speech
HP:0002575Tracheoesophageal fistula
HP:0002616Aortic root aneurysm
HP:0004397Ectopic anus
HP:0004467Preauricular pit
HP:0005301Persistent left superior vena cava
HP:0005487Prominent metopic ridge
HP:0006817Aplasia/Hypoplasia of the cerebellar vermis
HP:0008872Feeding difficulties in infancy
HP:0010307Stridor
HP:0012443Abnormality of brain morphology
HP:0031936Delayed ability to walk
HP:0100879Enlarged ovaries
Очень редкий (1–4%)9
HP:0000486Strabismus
HP:0000539Abnormality of refraction
HP:0000668Hypodontia
HP:0000695Natal tooth
HP:0000813Bicornuate uterus
HP:0002779Tracheomalacia
HP:0003422Vertebral segmentation defect
HP:0010296Ankyloglossia
HP:0010518Thyroglossal cyst
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)