Ataxia-telangiectasia-like disorder
ORPHA:251347DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)1
HP:0001251Ataxia
Частый (30–79%)17
HP:0000298Mask-like facies
HP:0000514Slow saccadic eye movements
HP:0000657Oculomotor apraxia
HP:0001260Dysarthria
HP:0001272Cerebellar atrophy
HP:0001290Generalized hypotonia
HP:0001310Dysmetria
HP:0001315Reduced tendon reflexes
HP:0001320Cerebellar vermis hypoplasia
HP:0001332Dystonia
HP:0002066Gait ataxia
HP:0002072Chorea
HP:0002080Intention tremor
HP:0002198Dilated fourth ventricle
HP:0002310Orofacial dyskinesia
HP:0003438Absent Achilles reflex
HP:0100953Enlarged interhemispheric fissure
Периодический (5–29%)15
HP:0000617Abnormality of ocular smooth pursuit
HP:0000640Gaze-evoked nystagmus
HP:0000641Dysmetric saccades
HP:0000750Delayed speech and language development
HP:0000815Hypergonadotropic hypogonadism
HP:0001336Myoclonus
HP:0001382Joint hypermobility
HP:0001761Pes cavus
HP:0002075Dysdiadochokinesis
HP:0002307Drooling
HP:0002359Frequent falls
HP:0006801Hyperactive deep tendon reflexes
HP:0007141Sensorimotor neuropathy
HP:0010544Vertical nystagmus
HP:0040010Small posterior fossa
Очень редкий (1–4%)1
HP:0004322Short stature
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)