Paternal 20q13.2q13.3 microdeletion syndrome
ORPHA:261304Malformation syndromeNot applicableAntenatal, Neonatal
Фенотипы (HPO)24
Очень частый (80–99%)22
HP:0000233Thin vermilion border
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000400Macrotia
HP:0000414Bulbous nose
HP:0000431Wide nasal bridge
HP:0000490Deeply set eye
HP:0000963Thin skin
HP:0001010Hypopigmentation of the skin
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0008070Sparse hair
HP:0010781Skin dimple
HP:0011343Moderate global developmental delay
HP:0011968Feeding difficulties
HP:0100578Lipoatrophy
HP:0100840Aplasia/Hypoplasia of the eyebrow
Частый (30–79%)2
HP:0001562Oligohydramnios
HP:0002098Respiratory distress
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)