Proximal 16p11.2 microdeletion syndrome
ORPHA:261197Malformation syndromeAutosomal dominant, Not applicableChildhood
Ассоциированные гены1
Фенотипы (HPO)52
Очень частый (80–99%)3
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0001263Global developmental delay
Частый (30–79%)11
HP:0000256Macrocephaly
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001256Intellectual disability, mild
HP:0001270Motor delay
HP:0001328Specific learning disability
HP:0006863Severe expressive language delay
HP:0007018Attention deficit hyperactivity disorder
HP:0009088Speech articulation difficulties
HP:0011351Moderate receptive language delay
HP:0410263Brain imaging abnormality
Периодический (5–29%)29
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000347Micrognathia
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000717Autism
HP:0000733Abnormal repetitive mannerisms
HP:0001250Seizure
HP:0001266Choreoathetosis
HP:0001332Dystonia
HP:0001508Failure to thrive
HP:0001513Obesity
HP:0001627Abnormal heart morphology
HP:0001631Atrial septal defect
HP:0001646Abnormal aortic valve morphology
HP:0001999Abnormal facial shape
HP:0002020Gastroesophageal reflux
HP:0002119Ventriculomegaly
HP:0002280Enlarged cisterna magna
HP:0002650Scoliosis
HP:0002691Platybasia
HP:0003468Abnormal vertebral morphology
HP:0007099Chiari type I malformation
HP:0007166Paroxysmal dyskinesia
HP:0011098Speech apraxia
HP:0011800Midface retrusion
HP:0011968Feeding difficulties
HP:0012760Reduced social responsiveness
HP:0100702Arachnoid cyst
Очень редкий (1–4%)9
HP:0000003Multicystic kidney dysplasia
HP:0000175Cleft palate
HP:0000776Congenital diaphragmatic hernia
HP:0000902Rib fusion
HP:0001161Hand polydactyly
HP:0001363Craniosynostosis
HP:0001651Dextrocardia
HP:0002021Pyloric stenosis
HP:0003396Syringomyelia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 20 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 20 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)