16p13.11 microdeletion syndrome
ORPHA:261236Malformation syndromeAutosomal dominant, Not applicableInfancy, Neonatal
Фенотипы (HPO)40
Очень частый (80–99%)4
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0010864Intellectual disability, severe
Частый (30–79%)5
HP:0000252Microcephaly
HP:0000463Anteverted nares
HP:0002197Generalized-onset seizure
HP:0003196Short nose
HP:0004322Short stature
Периодический (5–29%)31
HP:0000028Cryptorchidism
HP:0000154Wide mouth
HP:0000175Cleft palate
HP:0000204Cleft upper lip
HP:0000219Thin upper lip vermilion
HP:0000319Smooth philtrum
HP:0000369Low-set ears
HP:0000384Preauricular skin tag
HP:0000407Sensorineural hearing impairment
HP:0000413Atresia of the external auditory canal
HP:0000494Downslanted palpebral fissures
HP:0000722Compulsive behaviors
HP:0000767Pectus excavatum
HP:0001274Agenesis of corpus callosum
HP:0001276Hypertonia
HP:0001360Holoprosencephaly
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001762Talipes equinovarus
HP:0002020Gastroesophageal reflux
HP:0002119Ventriculomegaly
HP:0002263Exaggerated cupid's bow
HP:0002269Abnormality of neuronal migration
HP:0002353EEG abnormality
HP:0005280Depressed nasal bridge
HP:0009914Cyclopia
HP:0010508Metatarsus valgus
HP:0011968Feeding difficulties
HP:0100490Camptodactyly of finger
HP:0100716Self-injurious behavior
HP:0100753Schizophrenia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7 | Worldwide | Value and class |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)