15q13.3 microdeletion syndrome
ORPHA:199318Malformation syndromeAutosomal dominant, Not applicableChildhood
Ассоциированные гены1
Фенотипы (HPO)21
Частый (30–79%)2
HP:0001249Intellectual disability
HP:0001263Global developmental delay
Периодический (5–29%)19
HP:0000252Microcephaly
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000400Macrotia
HP:0000411Protruding ear
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000717Autism
HP:0000995Melanocytic nevus
HP:0001250Seizure
HP:0001252Hypotonia
HP:0002007Frontal bossing
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0005274Prominent nasal tip
HP:0007018Attention deficit hyperactivity disorder
HP:0007302Bipolar affective disorder
HP:0030680Abnormal cardiovascular system morphology
HP:0100753Schizophrenia
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 | Worldwide | Class only |
| Cases/families | — | 264 | Worldwide | Case(s) |
| Prevalence at birth | 1-5 / 10 000 | 0.018 | United States | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 0.04 | Norway | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)