Qazi-Markouizos syndrome
ORPHA:3010DiseaseInfancy, Neonatal
Фенотипы (HPO)23
Очень частый (80–99%)6
HP:0001216Delayed ossification of carpal bones
HP:0002353EEG abnormality
HP:0008947Floppy infant
HP:0011344Severe global developmental delay
HP:0012450Chronic constipation
HP:0200000Dysharmonic bone age
Частый (30–79%)4
HP:0000028Cryptorchidism
HP:0001182Tapered finger
HP:0001250Seizure
HP:0002719Recurrent infections
Периодический (5–29%)13
HP:0000194Open mouth
HP:0000289Broad philtrum
HP:0000316Hypertelorism
HP:0000426Prominent nasal bridge
HP:0000473Torticollis
HP:0000486Strabismus
HP:0000685Hypoplasia of teeth
HP:0000767Pectus excavatum
HP:0001792Small nail
HP:0002307Drooling
HP:0002705High, narrow palate
HP:0003270Abdominal distention
HP:0007477Abnormal dermatoglyphics
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)