Distal deletion 6p syndrome
ORPHA:96125Malformation syndromeNot applicable, UnknownAntenatal, Infancy, Neonatal
Фенотипы (HPO)39
Очень частый (80–99%)6
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000593Abnormal anterior chamber morphology
HP:0000750Delayed speech and language development
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
Частый (30–79%)22
HP:0000164Abnormality of the dentition
HP:0000272Malar flattening
HP:0000286Epicanthus
HP:0000319Smooth philtrum
HP:0000322Short philtrum
HP:0000337Broad forehead
HP:0000365Hearing impairment
HP:0000430Underdeveloped nasal alae
HP:0000445Wide nose
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000501Glaucoma
HP:0000627Posterior embryotoxon
HP:0001631Atrial septal defect
HP:0002714Downturned corners of mouth
HP:0004209Clinodactyly of the 5th finger
HP:0005280Depressed nasal bridge
HP:0007676Hypoplasia of the iris
HP:0007957Corneal opacity
HP:0008499High hypermetropia
HP:0011483Anterior synechiae of the anterior chamber
Периодический (5–29%)11
HP:0000202Orofacial cleft
HP:0000347Micrognathia
HP:0001762Talipes equinovarus
HP:0001773Short foot
HP:0002119Ventriculomegaly
HP:0002650Scoliosis
HP:0003422Vertebral segmentation defect
HP:0004279Short palm
HP:0005930Abnormality of epiphysis morphology
HP:0009918Ectopia pupillae
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 35 | 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)