5q14.3 microdeletion syndrome
ORPHA:228384Etiological subtypeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)7
HP:0000337Broad forehead
HP:0000348High forehead
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001252Hypotonia
HP:0010864Intellectual disability, severe
Частый (30–79%)7
HP:0000322Short philtrum
HP:0000582Upslanted palpebral fissure
HP:0000733Abnormal repetitive mannerisms
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0003196Short nose
HP:0012639Abnormal nervous system morphology
Периодический (5–29%)10
HP:0000194Open mouth
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000574Thick eyebrow
HP:0000609Optic nerve hypoplasia
HP:0001770Toe syndactyly
HP:0002335Agenesis of cerebellar vermis
HP:0006913Frontal cortical atrophy
HP:0011968Feeding difficulties
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)