Non-distal duplication 13q syndrome
ORPHA:1702Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)27
Очень частый (80–99%)15
HP:0000233Thin vermilion border
HP:0000243Trigonocephaly
HP:0000343Long philtrum
HP:0000499Abnormal eyelash morphology
HP:0000574Thick eyebrow
HP:0000601Hypotelorism
HP:0000664Synophrys
HP:0000774Narrow chest
HP:0001028Hemangioma
HP:0002916Abnormality of chromosome segregation
HP:0003196Short nose
HP:0006610Wide intermamillary distance
HP:0009738Abnormality of the antihelix
HP:0009906Aplasia/Hypoplasia of the earlobes
HP:0100543Cognitive impairment
Частый (30–79%)11
HP:0000028Cryptorchidism
HP:0000164Abnormality of the dentition
HP:0000218High palate
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0001162Postaxial hand polydactyly
HP:0001166Arachnodactyly
HP:0001231Abnormal fingernail morphology
HP:0001800Hypoplastic toenails
HP:0100790Hernia
Периодический (5–29%)1
HP:0008056Aplasia/Hypoplasia affecting the eye
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)