KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
ORPHA:457193Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)39
Очень частый (80–99%)10
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000341Narrow forehead
HP:0000426Prominent nasal bridge
HP:0000455Broad nasal tip
HP:0001263Global developmental delay
HP:0001319Neonatal hypotonia
HP:0001999Abnormal facial shape
HP:0002465Poor speech
HP:0010864Intellectual disability, severe
Частый (30–79%)19
HP:0000286Epicanthus
HP:0000308Microretrognathia
HP:0000358Posteriorly rotated ears
HP:0000486Strabismus
HP:0000508Ptosis
HP:0001250Seizure
HP:0001357Plagiocephaly
HP:0001363Craniosynostosis
HP:0001510Growth delay
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0002020Gastroesophageal reflux
HP:0002643Neonatal respiratory distress
HP:0002714Downturned corners of mouth
HP:0003552Muscle stiffness
HP:0004322Short stature
HP:0011968Feeding difficulties
HP:0100704Cerebral visual impairment
Периодический (5–29%)10
HP:0000028Cryptorchidism
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000648Optic atrophy
HP:0001156Brachydactyly
HP:0001332Dystonia
HP:0001601Laryngomalacia
HP:0002566Intestinal malrotation
HP:0004467Preauricular pit
HP:0007678Lacrimal duct stenosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 76 | 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)