Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
ORPHA:453521DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)24
Частый (30–79%)23
HP:0000657Oculomotor apraxia
HP:0000664Synophrys
HP:0000666Horizontal nystagmus
HP:0000750Delayed speech and language development
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001310Dysmetria
HP:0001320Cerebellar vermis hypoplasia
HP:0001332Dystonia
HP:0001350Slurred speech
HP:0002066Gait ataxia
HP:0002078Truncal ataxia
HP:0002080Intention tremor
HP:0002312Clumsiness
HP:0002317Unsteady gait
HP:0002342Intellectual disability, moderate
HP:0002359Frequent falls
HP:0002470Nonprogressive cerebellar ataxia
HP:0003487Babinski sign
HP:0008947Floppy infant
HP:0009617Abnormality of the distal phalanx of the thumb
HP:0031435Monotonic speech
HP:0040196Mild microcephaly
Периодический (5–29%)1
HP:0001274Agenesis of corpus callosum
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)