Autosomal recessive spastic paraplegia type 20
ORPHA:101000DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)52
Частый (30–79%)30
HP:0000316Hypertelorism
HP:0000750Delayed speech and language development
HP:0000924Abnormality of the skeletal system
HP:0001155Abnormality of the hand
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001290Generalized hypotonia
HP:0001317Abnormal cerebellum morphology
HP:0001328Specific learning disability
HP:0001347Hyperreflexia
HP:0001350Slurred speech
HP:0001382Joint hypermobility
HP:0001510Growth delay
HP:0001760Abnormal foot morphology
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002313Spastic paraparesis
HP:0002464Spastic dysarthria
HP:0002495Impaired vibratory sensation
HP:0003202Skeletal muscle atrophy
HP:0003484Upper limb muscle weakness
HP:0003487Babinski sign
HP:0004322Short stature
HP:0005922Abnormal hand morphology
HP:0011094Overbite
HP:0012443Abnormality of brain morphology
HP:0100518Dysuria
HP:0100543Cognitive impairment
Периодический (5–29%)21
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000369Low-set ears
HP:0000448Prominent nose
HP:0000494Downslanted palpebral fissures
HP:0000709Psychosis
HP:0000712Emotional lability
HP:0000738Hallucinations
HP:0000739Anxiety
HP:0001172Abnormal thumb morphology
HP:0001609Hoarse voice
HP:0001761Pes cavus
HP:0002064Spastic gait
HP:0002360Sleep abnormality
HP:0002857Genu valgum
HP:0003693Distal amyotrophy
HP:0005288Abnormality of the nares
HP:0011098Speech apraxia
HP:0011448Ankle clonus
HP:0025269Panic attack
HP:0030084Clinodactyly
Очень редкий (1–4%)1
HP:0000126Hydronephrosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 36 | 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)