Lissencephaly type 1 due to doublecortin gene mutation
ORPHA:2148DiseaseX-linked recessiveAdolescent, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)4
HP:0000708Atypical behavior
HP:0001250Seizure
HP:0002463Language impairment
HP:0100543Cognitive impairment
Частый (30–79%)10
HP:0001302Pachygyria
HP:0001371Flexion contracture
HP:0002197Generalized-onset seizure
HP:0003808Abnormal muscle tone
HP:0007015Poor gross motor coordination
HP:0007359Focal-onset seizure
HP:0012469Infantile spasms
HP:0012672Akinetic mutism
HP:0031882Agyria
HP:0100021Cerebral palsy
Периодический (5–29%)16
HP:0000713Agitation
HP:0000729Autistic behavior
HP:0000737Irritability
HP:0002015Dysphagia
HP:0002079Hypoplasia of the corpus callosum
HP:0002339Abnormal caudate nucleus morphology
HP:0002521Hypsarrhythmia
HP:0002650Scoliosis
HP:0002835Aspiration
HP:0005484Secondary microcephaly
HP:0006956Dilation of lateral ventricles
HP:0008872Feeding difficulties in infancy
HP:0012448Delayed myelination
HP:0012520Dilation of Virchow-Robin spaces
HP:0012762Cerebral white matter atrophy
HP:0200134Epileptic encephalopathy
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)