3q29 microdeletion syndrome
ORPHA:65286Malformation syndromeAutosomal dominantInfancy, Neonatal
Фенотипы (HPO)44
Очень частый (80–99%)2
HP:0001249Intellectual disability
HP:0001263Global developmental delay
Частый (30–79%)7
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000322Short philtrum
HP:0000369Low-set ears
HP:0000400Macrotia
HP:0000426Prominent nasal bridge
HP:0000750Delayed speech and language development
Периодический (5–29%)35
HP:0000047Hypospadias
HP:0000085Horseshoe kidney
HP:0000164Abnormality of the dentition
HP:0000202Orofacial cleft
HP:0000218High palate
HP:0000256Macrocephaly
HP:0000275Narrow face
HP:0000276Long face
HP:0000324Facial asymmetry
HP:0000494Downslanted palpebral fissures
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000678Dental crowding
HP:0000709Psychosis
HP:0000716Depression
HP:0000717Autism
HP:0000718Aggressive behavior
HP:0000739Anxiety
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0001000Abnormality of skin pigmentation
HP:0001182Tapered finger
HP:0001288Gait disturbance
HP:0001508Failure to thrive
HP:0001611Hypernasal speech
HP:0001643Patent ductus arteriosus
HP:0001682Subvalvular aortic stenosis
HP:0002020Gastroesophageal reflux
HP:0002092Pulmonary arterial hypertension
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0007018Attention deficit hyperactivity disorder
HP:0007302Bipolar affective disorder
HP:0008416Six lumbar vertebrae
HP:0001382Joint hypermobility
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)