Temple syndrome due to maternal uniparental disomy of chromosome 14
ORPHA:96184Etiological subtypeAntenatal, Neonatal
Ассоциированные гены3
Фенотипы (HPO)35
Очень частый (80–99%)6
HP:0000826Precocious puberty
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001773Short foot
HP:0008897Postnatal growth retardation
HP:0200055Small hand
Частый (30–79%)9
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001382Joint hypermobility
HP:0001511Intrauterine growth retardation
HP:0001513Obesity
HP:0001518Small for gestational age
HP:0001622Premature birth
HP:0001956Truncal obesity
HP:0004322Short stature
Периодический (5–29%)20
HP:0000028Cryptorchidism
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000218High palate
HP:0000293Full cheeks
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000403Recurrent otitis media
HP:0000445Wide nose
HP:0000463Anteverted nares
HP:0002021Pyloric stenosis
HP:0002650Scoliosis
HP:0003124Hypercholesterolemia
HP:0004904Maturity-onset diabetes of the young
HP:0005280Depressed nasal bridge
HP:0007010Poor fine motor coordination
HP:0011220Prominent forehead
HP:0011968Feeding difficulties
HP:0030084Clinodactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 64 | 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)