13q12.3 microdeletion syndrome
ORPHA:412035Malformation syndromeUnknownNeonatal
Фенотипы (HPO)30
Частый (30–79%)20
HP:0010763Low insertion of columella
HP:0012385Camptodactyly
HP:0012724Upper eyelid edema
HP:0000219Thin upper lip vermilion
HP:0000272Malar flattening
HP:0000430Underdeveloped nasal alae
HP:0000540Hypermetropia
HP:0000677Oligodontia
HP:0000742Self-mutilation
HP:0000750Delayed speech and language development
HP:0000752Hyperactivity
HP:0001047Atopic dermatitis
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0002013Vomiting
HP:0002019Constipation
HP:0002205Recurrent respiratory infections
HP:0002342Intellectual disability, moderate
HP:0004322Short stature
HP:0007328Impaired pain sensation
Периодический (5–29%)10
HP:0000028Cryptorchidism
HP:0000365Hearing impairment
HP:0000389Chronic otitis media
HP:0000776Congenital diaphragmatic hernia
HP:0001385Hip dysplasia
HP:0001513Obesity
HP:0002751Kyphoscoliosis
HP:0002870Obstructive sleep apnea
HP:0012393Allergy
HP:0200053Hemihypotrophy of lower limb
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)