Familial congenital mirror movements
ORPHA:238722DiseaseAutosomal dominant, Autosomal recessiveChildhood, Infancy
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| DNAL4 | dynein axonemal light chain 4 | Disease-causing germline mutation(s) in | gene with protein product | 610565 |
| RAD51 | RAD51 recombinase | Disease-causing germline mutation(s) in | gene with protein product | 179617 |
| DCC | DCC netrin 1 receptor | Disease-causing germline mutation(s) in | gene with protein product | 120470 |
| NTN1 | netrin 1 | Disease-causing germline mutation(s) in | gene with protein product | 601614 |
Фенотипы (HPO)14
Частый (30–79%)6
HP:0001335Bimanual synkinesia
HP:0002312Clumsiness
HP:0002492Morphological abnormality of the corticospinal tract
HP:0003388Easy fatigability
HP:0007010Poor fine motor coordination
HP:0100022Abnormality of movement
Периодический (5–29%)4
HP:0001274Agenesis of corpus callosum
HP:0001328Specific learning disability
HP:0003326Myalgia
HP:0025101Dysgenesis of the hippocampus
Очень редкий (1–4%)4
HP:0000044Hypogonadotropic hypogonadism
HP:0001256Intellectual disability, mild
HP:0002949Fused cervical vertebrae
HP:0100021Cerebral palsy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 75 | 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)