PRUNE1-related neurological syndrome
ORPHA:544469Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)7
HP:0001263Global developmental delay
HP:0001285Spastic tetraparesis
HP:0001344Absent speech
HP:0002020Gastroesophageal reflux
HP:0002540Inability to walk
HP:0008936Axial hypotonia
HP:0010864Intellectual disability, severe
Частый (30–79%)13
HP:0000252Microcephaly
HP:0001250Seizure
HP:0001272Cerebellar atrophy
HP:0001357Plagiocephaly
HP:0002059Cerebral atrophy
HP:0002093Respiratory insufficiency
HP:0002169Clonus
HP:0002353EEG abnormality
HP:0002650Scoliosis
HP:0008872Feeding difficulties in infancy
HP:0012448Delayed myelination
HP:0032794Myoclonic seizure
HP:0033725Thin corpus callosum
Периодический (5–29%)11
HP:0001776Bilateral talipes equinovarus
HP:0003236Elevated circulating creatine kinase concentration
HP:0011097Epileptic spasm
HP:0100704Cerebral visual impairment
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000518Cataract
HP:0000648Optic atrophy
HP:0001308Tongue fasciculations
HP:0001347Hyperreflexia
HP:0001639Hypertrophic cardiomyopathy
Очень редкий (1–4%)2
HP:0000488Retinopathy
HP:0002313Spastic paraparesis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 48 | 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)