Monosomy 13q14 syndrome
ORPHA:1587Malformation syndromeNot applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)8
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000391Thickened helices
HP:0000426Prominent nasal bridge
HP:0000431Wide nasal bridge
HP:0001249Intellectual disability
HP:0001511Intrauterine growth retardation
HP:0004322Short stature
Частый (30–79%)17
HP:0000243Trigonocephaly
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000470Short neck
HP:0000508Ptosis
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000612Iris coloboma
HP:0001156Brachydactyly
HP:0001252Hypotonia
HP:0004209Clinodactyly of the 5th finger
HP:0006101Finger syndactyly
HP:0007477Abnormal dermatoglyphics
HP:0009919Retinoblastoma
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)5
HP:0000465Webbed neck
HP:0001360Holoprosencephaly
HP:0002079Hypoplasia of the corpus callosum
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0011024Abnormality of the gastrointestinal tract
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)