Spastic paraplegia-severe developmental delay-epilepsy syndrome
ORPHA:464282DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)3
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0007020Progressive spastic paraplegia
Частый (30–79%)23
HP:0000316Hypertelorism
HP:0000407Sensorineural hearing impairment
HP:0000490Deeply set eye
HP:0000545Myopia
HP:0000556Retinal dystrophy
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0002061Lower limb spasticity
HP:0002123Generalized myoclonic seizure
HP:0002317Unsteady gait
HP:0002515Waddling gait
HP:0002650Scoliosis
HP:0002714Downturned corners of mouth
HP:0002808Kyphosis
HP:0002827Hip dislocation
HP:0008936Axial hypotonia
HP:0025313Exophoria
HP:0031087Absent pubertal growth spurt
Периодический (5–29%)12
HP:0000020Urinary incontinence
HP:0000252Microcephaly
HP:0001513Obesity
HP:0002059Cerebral atrophy
HP:0002069Bilateral tonic-clonic seizure
HP:0002079Hypoplasia of the corpus callosum
HP:0004322Short stature
HP:0008373Puberty and gonadal disorders
HP:0010219Structural foot deformity
HP:0011166Focal myoclonic seizure
HP:0011401Delayed peripheral myelination
HP:0012762Cerebral white matter atrophy
Исключён (0%)2
HP:0001437Abnormality of the musculature of the lower limbs
HP:0002380Fasciculations
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 16 | 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)