Temple syndrome due to paternal 14q32.2 hypomethylation
ORPHA:254531Etiological subtypeAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены3
Фенотипы (HPO)28
Очень частый (80–99%)7
HP:0200055Small hand
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001382Joint hypermobility
HP:0001511Intrauterine growth retardation
HP:0001773Short foot
Частый (30–79%)5
HP:0000826Precocious puberty
HP:0001513Obesity
HP:0008897Postnatal growth retardation
HP:0011220Prominent forehead
HP:0011968Feeding difficulties
Периодический (5–29%)16
HP:0000218High palate
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000403Recurrent otitis media
HP:0000445Wide nose
HP:0000729Autistic behavior
HP:0000817Reduced eye contact
HP:0001249Intellectual disability
HP:0002650Scoliosis
HP:0003124Hypercholesterolemia
HP:0004673Decreased facial expression
HP:0004904Maturity-onset diabetes of the young
HP:0007010Poor fine motor coordination
HP:0008947Floppy infant
HP:0012760Reduced social responsiveness
HP:0030084Clinodactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 12 | 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)