17q12 microdeletion syndrome
ORPHA:261265Malformation syndromeNot applicableAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)21
Очень частый (80–99%)1
HP:0000003Multicystic kidney dysplasia
Частый (30–79%)2
HP:0000819Diabetes mellitus
HP:0004322Short stature
Периодический (5–29%)18
HP:0000028Cryptorchidism
HP:0000049Shawl scrotum
HP:0000070Ureterocele
HP:0000083Renal insufficiency
HP:0000239Large fontanelles
HP:0000365Hearing impairment
HP:0000717Autism
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001562Oligohydramnios
HP:0002059Cerebral atrophy
HP:0002463Language impairment
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0008678Renal hypoplasia/aplasia
HP:0011968Feeding difficulties
HP:0012157Subcortical cerebral atrophy
HP:0100801Pancreatic aplasia
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.16 | Denmark | Value and class |
| Cases/families | — | 103 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)