Non-progressive cerebellar ataxia with intellectual disability
ORPHA:314647DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)39
Очень частый (80–99%)2
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
Частый (30–79%)24
HP:0000179Thick lower lip vermilion
HP:0000276Long face
HP:0000307Pointed chin
HP:0000343Long philtrum
HP:0000414Bulbous nose
HP:0000445Wide nose
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0001251Ataxia
HP:0001260Dysarthria
HP:0001310Dysmetria
HP:0001319Neonatal hypotonia
HP:0001321Cerebellar hypoplasia
HP:0002019Constipation
HP:0002317Unsteady gait
HP:0002354Memory impairment
HP:0002470Nonprogressive cerebellar ataxia
HP:0002536Abnormal cortical gyration
HP:0011166Focal myoclonic seizure
HP:0012433Abnormal social behavior
Очень редкий (1–4%)11
HP:0000160Narrow mouth
HP:0000256Macrocephaly
HP:0001348Brisk reflexes
HP:0002003Large forehead
HP:0002080Intention tremor
HP:0002120Cerebral cortical atrophy
HP:0007256Abnormal pyramidal sign
HP:0011067Mesiodens
HP:0025517Hypoplastic hippocampus
HP:0100540Palpebral edema
HP:0400005Short ear
Исключён (0%)2
HP:0000639Nystagmus
HP:0002403Positive Romberg sign
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)