1q44 microdeletion syndrome
ORPHA:238769Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)8
HP:0000233Thin vermilion border
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001274Agenesis of corpus callosum
HP:0002069Bilateral tonic-clonic seizure
HP:0002263Exaggerated cupid's bow
HP:0010864Intellectual disability, severe
Частый (30–79%)12
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000347Micrognathia
HP:0000486Strabismus
HP:0000506Telecanthus
HP:0000582Upslanted palpebral fissure
HP:0001510Growth delay
HP:0001671Abnormal cardiac septum morphology
HP:0002119Ventriculomegaly
HP:0004322Short stature
Периодический (5–29%)13
HP:0000076Vesicoureteral reflux
HP:0000085Horseshoe kidney
HP:0000218High palate
HP:0000238Hydrocephalus
HP:0000348High forehead
HP:0000384Preauricular skin tag
HP:0000664Synophrys
HP:0002007Frontal bossing
HP:0002566Intestinal malrotation
HP:0002650Scoliosis
HP:0004422Biparietal narrowing
HP:0005487Prominent metopic ridge
HP:0007766Optic disc hypoplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)