Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
ORPHA:447997DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)3
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001347Hyperreflexia
Частый (30–79%)9
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001276Hypertonia
HP:0002015Dysphagia
HP:0002061Lower limb spasticity
HP:0002079Hypoplasia of the corpus callosum
HP:0005484Secondary microcephaly
HP:0011451Congenital microcephaly
HP:0012444Brain atrophy
Периодический (5–29%)22
HP:0000020Urinary incontinence
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000431Wide nasal bridge
HP:0000664Synophrys
HP:0000733Abnormal repetitive mannerisms
HP:0000737Irritability
HP:0000752Hyperactivity
HP:0001999Abnormal facial shape
HP:0002020Gastroesophageal reflux
HP:0002069Bilateral tonic-clonic seizure
HP:0002169Clonus
HP:0002205Recurrent respiratory infections
HP:0002521Hypsarrhythmia
HP:0002828Multiple joint contractures
HP:0003739Myoclonic spasms
HP:0005280Depressed nasal bridge
HP:0006808Cerebral hypomyelination
HP:0011471Gastrostomy tube feeding in infancy
HP:0012167Hair-pulling
HP:0012469Infantile spasms
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)