Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
ORPHA:477814Malformation syndromeAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)22
Очень частый (80–99%)5
HP:0000253Progressive microcephaly
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0002187Intellectual disability, profound
HP:0100704Cerebral visual impairment
Частый (30–79%)3
HP:0002719Recurrent infections
HP:0004322Short stature
HP:0004325Decreased body weight
Периодический (5–29%)14
HP:0034311Hypoplastic optic chiasm
HP:0000648Optic atrophy
HP:0000823Delayed puberty
HP:0001252Hypotonia
HP:0001531Failure to thrive in infancy
HP:0002110Bronchiectasis
HP:0002665Lymphoma
HP:0003202Skeletal muscle atrophy
HP:0005387Combined immunodeficiency
HP:0011330Metopic synostosis
HP:0012191B-cell lymphoma
HP:0012444Brain atrophy
HP:0032218Decreased proportion of CD4-positive T cells
HP:0033725Thin corpus callosum
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)