Monosomy 13q34 syndrome
ORPHA:96168Malformation syndromeNot applicableAntenatal, Neonatal
Фенотипы (HPO)35
Очень частый (80–99%)5
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0001513Obesity
HP:0001999Abnormal facial shape
Частый (30–79%)8
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000426Prominent nasal bridge
HP:0000448Prominent nose
HP:0000455Broad nasal tip
HP:0000494Downslanted palpebral fissures
HP:0003256Abnormality of the coagulation cascade
Периодический (5–29%)16
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000363Abnormality of earlobe
HP:0000421Epistaxis
HP:0000855Insulin resistance
HP:0001397Hepatic steatosis
HP:0001642Pulmonic stenosis
HP:0001763Pes planus
HP:0002573Hematochezia
HP:0003645Prolonged partial thromboplastin time
HP:0008151Prolonged prothrombin time
HP:0010945Fetal pyelectasis
HP:0011228Horizontal eyebrow
HP:0011565Common atrium
HP:0100608Metrorrhagia
Очень редкий (1–4%)6
HP:0003072Hypercalcemia
HP:0001162Postaxial hand polydactyly
HP:0001274Agenesis of corpus callosum
HP:0001830Postaxial foot polydactyly
HP:0032152Keratosis pilaris
HP:0040188Osteochondrosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)