Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
ORPHA:529665Malformation syndromeAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)2
HP:0001250Seizure
HP:0002353EEG abnormality
Частый (30–79%)25
HP:0000316Hypertelorism
HP:0000341Narrow forehead
HP:0000455Broad nasal tip
HP:0000463Anteverted nares
HP:0000545Myopia
HP:0000639Nystagmus
HP:0000657Oculomotor apraxia
HP:0000750Delayed speech and language development
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001256Intellectual disability, mild
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0001310Dysmetria
HP:0001321Cerebellar hypoplasia
HP:0001337Tremor
HP:0001347Hyperreflexia
HP:0002066Gait ataxia
HP:0002069Bilateral tonic-clonic seizure
HP:0003698Difficulty standing
HP:0011220Prominent forehead
HP:0012758Neurodevelopmental delay
Очень редкий (1–4%)3
HP:0000505Visual impairment
HP:0000648Optic atrophy
HP:0002133Status epilepticus
Исключён (0%)1
HP:0003155Elevated circulating alkaline phosphatase concentration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)