Microcephalic primordial dwarfism, Toriello type
ORPHA:2643Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)18
Очень частый (80–99%)13
HP:0000252Microcephaly
HP:0000494Downslanted palpebral fissures
HP:0000518Cataract
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001511Intrauterine growth retardation
HP:0002205Recurrent respiratory infections
HP:0002750Delayed skeletal maturation
HP:0002850Decreased circulating total IgM
HP:0003510Severe short stature
HP:0004315Decreased circulating IgG level
HP:0005930Abnormality of epiphysis morphology
HP:0006297Enamel hypoplasia
Частый (30–79%)5
HP:0000772Abnormal rib morphology
HP:0001252Hypotonia
HP:0001875Decreased total neutrophil count
HP:0002119Ventriculomegaly
HP:0002714Downturned corners of mouth
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)