Brain dopamine-serotonin vesicular transport disease
ORPHA:352649DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)31
HP:0000338Hypomimic face
HP:0000496Abnormality of eye movement
HP:0000508Ptosis
HP:0000975Hyperhidrosis
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001285Spastic tetraparesis
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0001300Parkinsonism
HP:0001332Dystonia
HP:0001337Tremor
HP:0001611Hypernasal speech
HP:0001760Abnormal foot morphology
HP:0002075Dysdiadochokinesis
HP:0002310Orofacial dyskinesia
HP:0002360Sleep abnormality
HP:0002362Shuffling gait
HP:0002421Poor head control
HP:0002451Limb dystonia
HP:0002597Abnormality of the vasculature
HP:0005484Secondary microcephaly
HP:0008936Axial hypotonia
HP:0010307Stridor
HP:0010553Oculogyric crisis
HP:0011443Abnormality of coordination
HP:0012378Fatigue
HP:0030215Inappropriate crying
HP:0100543Cognitive impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)