Temple syndrome due to paternal 14q32.2 microdeletion
ORPHA:254525Etiological subtypeAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены3
Фенотипы (HPO)22
Очень частый (80–99%)6
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001773Short foot
HP:0008897Postnatal growth retardation
HP:0200055Small hand
Частый (30–79%)3
HP:0001319Neonatal hypotonia
HP:0001511Intrauterine growth retardation
HP:0011220Prominent forehead
Периодический (5–29%)13
HP:0000119Abnormality of the genitourinary system
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000826Precocious puberty
HP:0001249Intellectual disability
HP:0001513Obesity
HP:0001627Abnormal heart morphology
HP:0002714Downturned corners of mouth
HP:0004482Relative macrocephaly
HP:0007010Poor fine motor coordination
HP:0008872Feeding difficulties in infancy
HP:0030084Clinodactyly
HP:0031878Acromicria
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)