Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
ORPHA:480898DiseaseAutosomal dominant, Autosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)7
HP:0000278Retrognathia
HP:0000490Deeply set eye
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0007371Corpus callosum atrophy
HP:0100275Diffuse cerebellar atrophy
Частый (30–79%)11
HP:0000212Gingival overgrowth
HP:0000253Progressive microcephaly
HP:0000322Short philtrum
HP:0000649Abnormality of visual evoked potentials
HP:0001212Prominent fingertip pads
HP:0001265Hyporeflexia
HP:0002059Cerebral atrophy
HP:0002187Intellectual disability, profound
HP:0002509Limb hypertonia
HP:0002650Scoliosis
HP:0031954Dystonic gait
Периодический (5–29%)13
HP:0000294Low anterior hairline
HP:0000347Micrognathia
HP:0000377Abnormal pinna morphology
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000545Myopia
HP:0000565Esotropia
HP:0000648Optic atrophy
HP:0001045Vitiligo
HP:0002023Anal atresia
HP:0002353EEG abnormality
HP:0008755Laryngotracheomalacia
HP:0100704Cerebral visual impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)