6q terminal deletion syndrome
ORPHA:75857Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)23
HP:0000294Low anterior hairline
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000486Strabismus
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001250Seizure
HP:0001256Intellectual disability, mild
HP:0001321Cerebellar hypoplasia
HP:0001508Failure to thrive
HP:0001999Abnormal facial shape
HP:0002079Hypoplasia of the corpus callosum
HP:0002126Polymicrogyria
HP:0002269Abnormality of neuronal migration
HP:0002282Gray matter heterotopia
HP:0002500Abnormal cerebral white matter morphology
HP:0002521Hypsarrhythmia
HP:0002538Abnormality of the cerebral cortex
HP:0002705High, narrow palate
HP:0007165Periventricular heterotopia
HP:0008947Floppy infant
HP:0030048Colpocephaly
HP:0000358Posteriorly rotated ears
Частый (30–79%)6
HP:0000540Hypermetropia
HP:0000639Nystagmus
HP:0001310Dysmetria
HP:0002066Gait ataxia
HP:0012471Thick vermilion border
HP:0001382Joint hypermobility
Периодический (5–29%)20
HP:0000047Hypospadias
HP:0000256Macrocephaly
HP:0000268Dolichocephaly
HP:0000289Broad philtrum
HP:0000470Short neck
HP:0000771Gynecomastia
HP:0000962Hyperkeratosis
HP:0001357Plagiocephaly
HP:0001513Obesity
HP:0001741Phimosis
HP:0001822Hallux valgus
HP:0001884Talipes calcaneovalgus
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0005487Prominent metopic ridge
HP:0006610Wide intermamillary distance
HP:0006712Aplasia/Hypoplasia of the ribs
HP:0011220Prominent forehead
HP:0030084Clinodactyly
HP:0012745Short palpebral fissure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 19 | 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)