Pelizaeus-Merzbacher disease in female carriers
ORPHA:280229Clinical subtypeX-linked recessiveAdult
Ассоциированные гены1
Фенотипы (HPO)28
Периодический (5–29%)28
HP:0000011Neurogenic bladder
HP:0000316Hypertelorism
HP:0000490Deeply set eye
HP:0000639Nystagmus
HP:0000666Horizontal nystagmus
HP:0001252Hypotonia
HP:0001268Mental deterioration
HP:0001273Abnormal corpus callosum morphology
HP:0001288Gait disturbance
HP:0001347Hyperreflexia
HP:0001510Growth delay
HP:0002061Lower limb spasticity
HP:0002167Abnormality of speech or vocalization
HP:0002197Generalized-onset seizure
HP:0002313Spastic paraparesis
HP:0002376Developmental regression
HP:0002540Inability to walk
HP:0003429CNS hypomyelination
HP:0003487Babinski sign
HP:0007413Nevus flammeus of the forehead
HP:0010936Abnormality of the lower urinary tract
HP:0011342Mild global developmental delay
HP:0011343Moderate global developmental delay
HP:0011800Midface retrusion
HP:0030784Anomia
HP:0030890Hyperintensity of cerebral white matter on MRI
HP:0032044Decreased vigilance
HP:0032588Hand apraxia
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)