20p13 microdeletion syndrome
ORPHA:313781Malformation syndromeAutosomal dominant, Not applicableInfancy, Neonatal
Фенотипы (HPO)35
Очень частый (80–99%)1
HP:0001270Motor delay
Частый (30–79%)16
HP:0000219Thin upper lip vermilion
HP:0000260Wide anterior fontanel
HP:0000319Smooth philtrum
HP:0000369Low-set ears
HP:0000377Abnormal pinna morphology
HP:0000426Prominent nasal bridge
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001531Failure to thrive in infancy
HP:0001792Small nail
HP:0002353EEG abnormality
HP:0002421Poor head control
HP:0002553Highly arched eyebrow
HP:0004325Decreased body weight
HP:0011220Prominent forehead
Периодический (5–29%)18
HP:0000252Microcephaly
HP:0000256Macrocephaly
HP:0000316Hypertelorism
HP:0000358Posteriorly rotated ears
HP:0000482Microcornea
HP:0000488Retinopathy
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000664Synophrys
HP:0001156Brachydactyly
HP:0006101Finger syndactyly
HP:0007663Reduced visual acuity
HP:0008589Hypoplastic helices
HP:0010442Polydactyly
HP:0010804Tented upper lip vermilion
HP:0030084Clinodactyly
HP:0045025Narrow palpebral fissure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)