Inverted duplicated chromosome 15 syndrome
ORPHA:3306Malformation syndromeNot applicable, UnknownNeonatal
Фенотипы (HPO)41
Очень частый (80–99%)4
HP:0000729Autistic behavior
HP:0001290Generalized hypotonia
HP:0001382Joint hypermobility
HP:0002307Drooling
Частый (30–79%)9
HP:0000733Abnormal repetitive mannerisms
HP:0000752Hyperactivity
HP:0001250Seizure
HP:0006863Severe expressive language delay
HP:0010529Echolalia
HP:0011352Severe receptive language delay
HP:0011968Feeding difficulties
HP:0012169Self-biting
HP:0012758Neurodevelopmental delay
Периодический (5–29%)19
HP:0000358Posteriorly rotated ears
HP:0000135Hypogonadism
HP:0000218High palate
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000322Short philtrum
HP:0000455Broad nasal tip
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000664Synophrys
HP:0000718Aggressive behavior
HP:0001156Brachydactyly
HP:0001510Growth delay
HP:0001999Abnormal facial shape
HP:0004209Clinodactyly of the 5th finger
HP:00046912-3 toe syndactyly
HP:0012443Abnormality of brain morphology
Очень редкий (1–4%)8
HP:0000028Cryptorchidism
HP:0000122Unilateral renal agenesis
HP:0000133Gonadal dysgenesis
HP:0000826Precocious puberty
HP:0001629Ventricular septal defect
HP:0001636Tetralogy of Fallot
HP:0001762Talipes equinovarus
HP:0100790Hernia
Исключён (0%)1
HP:0002007Frontal bossing
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.33 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)