Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
ORPHA:363429DiseaseAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)32
Очень частый (80–99%)4
HP:0000639Nystagmus
HP:0000657Oculomotor apraxia
HP:0002073Progressive cerebellar ataxia
HP:0007256Abnormal pyramidal sign
Частый (30–79%)21
HP:0000508Ptosis
HP:0000543Optic disc pallor
HP:0000565Esotropia
HP:0000571Hypometric saccades
HP:0000666Horizontal nystagmus
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0001310Dysmetria
HP:0001510Growth delay
HP:0001583Rotary nystagmus
HP:0001763Pes planus
HP:0002075Dysdiadochokinesis
HP:0002119Ventriculomegaly
HP:0002136Broad-based gait
HP:0002464Spastic dysarthria
HP:0004322Short stature
HP:0007221Progressive truncal ataxia
HP:0007240Progressive gait ataxia
HP:0100275Diffuse cerebellar atrophy
Периодический (5–29%)6
HP:0001347Hyperreflexia
HP:0002465Poor speech
HP:0002828Multiple joint contractures
HP:0003487Babinski sign
HP:0006951Retrocerebellar cyst
HP:0010864Intellectual disability, severe
Исключён (0%)1
HP:0001250Seizure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | 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)