Proboscis lateralis
ORPHA:141099Malformation syndromeNot applicableAntenatal, Infancy, Neonatal
Фенотипы (HPO)49
Очень частый (80–99%)2
HP:0000245Abnormality of the paranasal sinuses
HP:0012806Proboscis
Частый (30–79%)8
HP:0000625Eyelid coloboma
HP:0002011Morphological central nervous system abnormality
HP:0002119Ventriculomegaly
HP:0009932Single naris
HP:0011821Abnormality of facial skeleton
HP:0012372Abnormal eye morphology
HP:0032039Abnormality of the ocular adnexa
HP:0430023Abnormality of the maxillary sinus
Периодический (5–29%)20
HP:0000202Orofacial cleft
HP:0000218High palate
HP:0000256Macrocephaly
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000534Abnormal eyebrow morphology
HP:0000567Chorioretinal coloboma
HP:0000579Nasolacrimal duct obstruction
HP:0000609Optic nerve hypoplasia
HP:0000612Iris coloboma
HP:0000614Abnormal nasolacrimal system morphology
HP:0001273Abnormal corpus callosum morphology
HP:0001360Holoprosencephaly
HP:0003241External genital hypoplasia
HP:0007957Corneal opacity
HP:0009117Aplasia/Hypoplasia of the maxilla
HP:0040296Abnormal location of the eyebrow
HP:0430005Abnormality of ethmoid bone
HP:3000030Abnormal morphology of bony orbit of skull
Очень редкий (1–4%)19
HP:0000122Unilateral renal agenesis
HP:0000286Epicanthus
HP:0000453Choanal atresia
HP:0000482Microcornea
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000518Cataract
HP:0000520Proptosis
HP:0000528Anophthalmia
HP:0000568Microphthalmia
HP:0000588Optic disc coloboma
HP:0001144Orbital cyst
HP:0001629Ventricular septal defect
HP:0001643Patent ductus arteriosus
HP:0005580Duplication of renal pelvis
HP:0007946Unilateral narrow palpebral fissure
HP:0009914Cyclopia
HP:0012300Ureteral agenesis
HP:0012738Agenesis of canine
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)