Orofaciodigital syndrome type 14
ORPHA:434179Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)42
Частый (30–79%)42
HP:0000039Epispadias
HP:0000175Cleft palate
HP:0000180Lobulated tongue
HP:0000191Accessory oral frenulum
HP:0000243Trigonocephaly
HP:0000252Microcephaly
HP:0000308Microretrognathia
HP:0000340Sloping forehead
HP:0000358Posteriorly rotated ears
HP:0000414Bulbous nose
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000480Retinal coloboma
HP:0000506Telecanthus
HP:0000582Upslanted palpebral fissure
HP:0001162Postaxial hand polydactyly
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001305Dandy-Walker malformation
HP:0001338Partial agenesis of the corpus callosum
HP:0001629Ventricular septal defect
HP:0001643Patent ductus arteriosus
HP:0001830Postaxial foot polydactyly
HP:0001999Abnormal facial shape
HP:0002079Hypoplasia of the corpus callosum
HP:0002198Dilated fourth ventricle
HP:0002419Molar tooth sign on MRI
HP:0007082Dilated third ventricle
HP:0007165Periventricular heterotopia
HP:0008689Bilateral cryptorchidism
HP:0008753Aplasia of the epiglottis
HP:0010051Deviation of the hallux
HP:0010055Broad hallux
HP:0010066Duplication of phalanx of hallux
HP:0010297Bifid tongue
HP:0010535Sleep apnea
HP:0011069Supernumerary tooth
HP:0011471Gastrostomy tube feeding in infancy
HP:0011802Hamartoma of tongue
HP:0012447Abnormal myelination
HP:0100954Open operculum
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Family(ies) |
| 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)