W syndrome
ORPHA:2804Malformation syndromeX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)25
HP:0000176Submucous cleft hard palate
HP:0000316Hypertelorism
HP:0000455Broad nasal tip
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0001061Acne
HP:0001137Alternating esotropia
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001761Pes cavus
HP:0001763Pes planus
HP:0001840Metatarsus adductus
HP:0002069Bilateral tonic-clonic seizure
HP:0002967Cubitus valgus
HP:0002986Radial bowing
HP:0003022Hypoplasia of the ulna
HP:0003042Elbow dislocation
HP:0005280Depressed nasal bridge
HP:0006293Agenesis of maxillary central incisor
HP:0010809Broad uvula
HP:0011220Prominent forehead
HP:0012385Camptodactyly
HP:0030084Clinodactyly
HP:0100037Abnormality of the scalp hair
HP:0100268Upper lip pit
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)