LIG4 syndrome
ORPHA:99812DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)35
Очень частый (80–99%)6
HP:0000252Microcephaly
HP:0000320Bird-like facies
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0002721Immunodeficiency
HP:0003220Abnormality of chromosome stability
Частый (30–79%)18
HP:0000233Thin vermilion border
HP:0000248Brachycephaly
HP:0000286Epicanthus
HP:0000294Low anterior hairline
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000506Telecanthus
HP:0000582Upslanted palpebral fissure
HP:0000992Cutaneous photosensitivity
HP:0001249Intellectual disability
HP:0001876Pancytopenia
HP:0002488Acute leukemia
HP:0002665Lymphoma
HP:0004422Biparietal narrowing
HP:0004430Severe combined immunodeficiency
HP:0005561Abnormality of bone marrow cell morphology
HP:0010783Erythema
HP:0000444Convex nasal ridge
Периодический (5–29%)11
HP:0000028Cryptorchidism
HP:0000821Hypothyroidism
HP:0000924Abnormality of the skeletal system
HP:0001974Leukocytosis
HP:0002024Malabsorption
HP:0002240Hepatomegaly
HP:0002716Lymphadenopathy
HP:0004209Clinodactyly of the 5th finger
HP:0005978Type II diabetes mellitus
HP:0008736Hypoplasia of penis
HP:0100585Telangiectasia of the skin
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 28 | 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)