Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
ORPHA:261190Clinical subtypeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)5
HP:0000175Cleft palate
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0004322Short stature
HP:0000750Delayed speech and language development
Частый (30–79%)7
HP:0000252Microcephaly
HP:0000307Pointed chin
HP:0000319Smooth philtrum
HP:0000322Short philtrum
HP:0000341Narrow forehead
HP:0000490Deeply set eye
HP:0004422Biparietal narrowing
Периодический (5–29%)16
HP:0000023Inguinal hernia
HP:0000164Abnormality of the dentition
HP:0000276Long face
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000426Prominent nasal bridge
HP:0000444Convex nasal ridge
HP:0000717Autism
HP:0001061Acne
HP:0001250Seizure
HP:0001601Laryngomalacia
HP:0001631Atrial septal defect
HP:0002650Scoliosis
HP:0002721Immunodeficiency
HP:0002808Kyphosis
HP:0001629Ventricular septal defect
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)