Dysequilibrium syndrome
ORPHA:1766DiseaseAutosomal recessiveNeonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| VLDLR | very low density lipoprotein receptor | Disease-causing germline mutation(s) in | gene with protein product | 192977 |
| WDR81 | WD repeat domain 81 | Disease-causing germline mutation(s) in | gene with protein product | 614218 |
| CA8 | carbonic anhydrase 8 | Disease-causing germline mutation(s) in | gene with protein product | 114815 |
| ATP8A2 | ATPase phospholipid transporting 8A2 | Disease-causing germline mutation(s) in | gene with protein product | 605870 |
| TUBB2B | tubulin beta 2B class IIb | Disease-causing germline mutation(s) in | gene with protein product | 612850 |
Фенотипы (HPO)14
Очень частый (80–99%)5
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001288Gait disturbance
HP:0001347Hyperreflexia
Частый (30–79%)6
HP:0000486Strabismus
HP:0001250Seizure
HP:0003202Skeletal muscle atrophy
HP:0004322Short stature
HP:0100021Cerebral palsy
HP:0100022Abnormality of movement
Периодический (5–29%)3
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0000518Cataract
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 51 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)