Microlissencephaly
ORPHA:1083Morphological anomalyAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)22
Облигатный (100%)1
HP:0000252Microcephaly
Очень частый (80–99%)7
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0002079Hypoplasia of the corpus callosum
HP:0007190Neuronal loss in the cerebral cortex
HP:0007266Cerebral dysmyelination
HP:0010864Intellectual disability, severe
HP:0025190Bilateral tonic-clonic seizure with generalized onset
Частый (30–79%)7
HP:0001276Hypertonia
HP:0001339Lissencephaly
HP:0001347Hyperreflexia
HP:0001999Abnormal facial shape
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0006891Thick cerebral cortex
Периодический (5–29%)7
HP:0001272Cerebellar atrophy
HP:0001302Pachygyria
HP:0002090Pneumonia
HP:0002126Polymicrogyria
HP:0007165Periventricular heterotopia
HP:0009879Simplified gyral pattern
HP:0032391Subcortical heterotopia
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)