2q32q33 deletion syndrome
ORPHA:251019Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)43
Очень частый (80–99%)4
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0004322Short stature
HP:0010864Intellectual disability, severe
Частый (30–79%)12
HP:0000175Cleft palate
HP:0000218High palate
HP:0000233Thin vermilion border
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000369Low-set ears
HP:0000426Prominent nasal bridge
HP:0000678Dental crowding
HP:0001252Hypotonia
HP:0001510Growth delay
HP:0002213Fine hair
HP:0011968Feeding difficulties
Периодический (5–29%)27
HP:0000160Narrow mouth
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000276Long face
HP:0000324Facial asymmetry
HP:0000343Long philtrum
HP:0000444Convex nasal ridge
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000677Oligodontia
HP:0000717Autism
HP:0000718Aggressive behavior
HP:0000739Anxiety
HP:0001166Arachnodactyly
HP:0001762Talipes equinovarus
HP:0001863Toe clinodactyly
HP:0002360Sleep abnormality
HP:0002546Incomprehensible speech
HP:0004209Clinodactyly of the 5th finger
HP:0007018Attention deficit hyperactivity disorder
HP:0008070Sparse hair
HP:0008734Decreased testicular size
HP:0010059Broad hallux phalanx
HP:0011304Broad thumb
HP:0100024Conspicuously happy disposition
HP:0001382Joint hypermobility
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)