4H leukodystrophy
ORPHA:289494DiseaseAdolescent, Adult, Childhood, Infancy
Фенотипы (HPO)32
Очень частый (80–99%)8
HP:0000044Hypogonadotropic hypogonadism
HP:0000164Abnormality of the dentition
HP:0000545Myopia
HP:0000668Hypodontia
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001332Dystonia
HP:0006808Cerebral hypomyelination
Частый (30–79%)10
HP:0000496Abnormality of eye movement
HP:0000823Delayed puberty
HP:0001337Tremor
HP:0002015Dysphagia
HP:0002071Abnormality of extrapyramidal motor function
HP:0002307Drooling
HP:0002493Upper motor neuron dysfunction
HP:0004322Short stature
HP:0007240Progressive gait ataxia
HP:0030890Hyperintensity of cerebral white matter on MRI
Периодический (5–29%)11
HP:0000570Abnormal saccadic eye movements
HP:0000640Gaze-evoked nystagmus
HP:0000684Delayed eruption of teeth
HP:0000824Decreased response to growth hormone stimulation test
HP:0001250Seizure
HP:0001268Mental deterioration
HP:0001272Cerebellar atrophy
HP:0001310Dysmetria
HP:0002075Dysdiadochokinesis
HP:0002079Hypoplasia of the corpus callosum
HP:0002926Abnormality of thyroid physiology
Очень редкий (1–4%)3
HP:0000518Cataract
HP:0000648Optic atrophy
HP:0031206Striatal T2 hyperintensity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Cases/families | — | 200 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)