20q11.2 microduplication syndrome
ORPHA:363659Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)53
Частый (30–79%)28
HP:0000028Cryptorchidism
HP:0000048Bifid scrotum
HP:0000212Gingival overgrowth
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000358Posteriorly rotated ears
HP:0000431Wide nasal bridge
HP:0000520Proptosis
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0001773Short foot
HP:0002342Intellectual disability, moderate
HP:0003196Short nose
HP:0004279Short palm
HP:0005280Depressed nasal bridge
HP:0005487Prominent metopic ridge
HP:0008551Microtia
HP:0009891Underdeveloped supraorbital ridges
HP:0010804Tented upper lip vermilion
HP:0011003High myopia
HP:0011825Tented philtrum
HP:0012368Flat face
HP:0100539Periorbital edema
HP:0100540Palpebral edema
Периодический (5–29%)25
HP:0000023Inguinal hernia
HP:0000054Micropenis
HP:0000190Abnormal oral frenulum morphology
HP:0000243Trigonocephaly
HP:0000248Brachycephaly
HP:0000325Triangular face
HP:0000341Narrow forehead
HP:0000422Abnormality of the nasal bridge
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000639Nystagmus
HP:0000736Short attention span
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0000960Sacral dimple
HP:0001250Seizure
HP:0001377Limited elbow extension
HP:0004209Clinodactyly of the 5th finger
HP:0006191Deep palmar crease
HP:0008846Severe intrauterine growth retardation
HP:0009894Thickened ears
HP:0010864Intellectual disability, severe
HP:0031008Lingual dystonia
HP:0200005Abnormal shape of the palpebral fissure
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)