2q23.1 microdeletion syndrome
ORPHA:228402Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)4
HP:0000733Abnormal repetitive mannerisms
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0010864Intellectual disability, severe
Частый (30–79%)24
HP:0000194Open mouth
HP:0000232Everted lower lip vermilion
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000272Malar flattening
HP:0000280Coarse facial features
HP:0000337Broad forehead
HP:0000664Synophrys
HP:0000749Paroxysmal bursts of laughter
HP:0000752Hyperactivity
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001510Growth delay
HP:0001852Sandal gap
HP:0002019Constipation
HP:0002230Generalized hirsutism
HP:0002360Sleep abnormality
HP:0002553Highly arched eyebrow
HP:0002591Polyphagia
HP:0004209Clinodactyly of the 5th finger
HP:0004279Short palm
HP:0004322Short stature
HP:0010804Tented upper lip vermilion
HP:0100716Self-injurious behavior
Периодический (5–29%)4
HP:0000028Cryptorchidism
HP:0001385Hip dysplasia
HP:0001572Macrodontia
HP:0008736Hypoplasia of penis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 18 | 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)