Optic atrophy-intellectual disability syndrome
ORPHA:401777DiseaseAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)39
Частый (30–79%)9
HP:0000648Optic atrophy
HP:0000729Autistic behavior
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0002079Hypoplasia of the corpus callosum
HP:0007663Reduced visual acuity
Периодический (5–29%)21
HP:0000286Epicanthus
HP:0000365Hearing impairment
HP:0000411Protruding ear
HP:0000426Prominent nasal bridge
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000565Esotropia
HP:0000577Exotropia
HP:0000582Upslanted palpebral fissure
HP:0000609Optic nerve hypoplasia
HP:0000646Amblyopia
HP:0000722Compulsive behaviors
HP:0001123Visual field defect
HP:0001182Tapered finger
HP:0001344Absent speech
HP:0003194Short nasal bridge
HP:0007018Attention deficit hyperactivity disorder
HP:0007766Optic disc hypoplasia
HP:0008762Repetitive compulsive behavior
HP:0011039Abnormality of the helix
HP:0100704Cerebral visual impairment
Очень редкий (1–4%)9
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000563Keratoconus
HP:0000639Nystagmus
HP:0001257Spasticity
HP:0002750Delayed skeletal maturation
HP:0004322Short stature
HP:0012448Delayed myelination
HP:0025100Abnormal hippocampus morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)