Aicardi syndrome
ORPHA:50DiseaseX-linked dominantNeonatal
Фенотипы (HPO)50
Очень частый (80–99%)9
HP:0001302Pachygyria
HP:0001338Partial agenesis of the corpus callosum
HP:0002126Polymicrogyria
HP:0002342Intellectual disability, moderate
HP:0007703Abnormality of retinal pigmentation
HP:0010864Intellectual disability, severe
HP:0011343Moderate global developmental delay
HP:0011344Severe global developmental delay
HP:0012469Infantile spasms
Частый (30–79%)20
HP:0000252Microcephaly
HP:0000322Short philtrum
HP:0000411Protruding ear
HP:0000568Microphthalmia
HP:0000892Bifid ribs
HP:0000902Rib fusion
HP:0000921Missing ribs
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001276Hypertonia
HP:0002119Ventriculomegaly
HP:0002353EEG abnormality
HP:0002650Scoliosis
HP:0003305Block vertebrae
HP:0003316Butterfly vertebrae
HP:0004374Hemiplegia/hemiparesis
HP:0005338Sparse lateral eyebrow
HP:0005815Supernumerary ribs
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0010759Premaxillary Prominence
Периодический (5–29%)21
HP:0000175Cleft palate
HP:0000204Cleft upper lip
HP:0000541Retinal detachment
HP:0000567Chorioretinal coloboma
HP:0000588Optic disc coloboma
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000823Delayed puberty
HP:0000826Precocious puberty
HP:0001000Abnormality of skin pigmentation
HP:0001012Multiple lipomas
HP:0001357Plagiocephaly
HP:0001385Hip dysplasia
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002024Malabsorption
HP:0002036Hiatus hernia
HP:0002884Hepatoblastoma
HP:0008872Feeding difficulties in infancy
HP:0200008Intestinal polyposis
HP:0200055Small hand
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.07 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.95 | United States | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | United States | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.4 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)