Pontocerebellar hypoplasia type 10
ORPHA:411493Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)4
HP:0000750Delayed speech and language development
HP:0001347Hyperreflexia
HP:0002194Delayed gross motor development
HP:0010862Delayed fine motor development
Частый (30–79%)16
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000520Proptosis
HP:0000527Long eyelashes
HP:0000637Long palpebral fissure
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001290Generalized hypotonia
HP:0001510Growth delay
HP:0002421Poor head control
HP:0002538Abnormality of the cerebral cortex
HP:0002553Highly arched eyebrow
HP:0007141Sensorimotor neuropathy
Периодический (5–29%)4
HP:0000737Irritability
HP:0002363Abnormal brainstem morphology
HP:0009879Simplified gyral pattern
HP:0025405Visual fixation instability
Очень редкий (1–4%)3
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000648Optic atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 23 | 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)