Ocular anomalies-axonal neuropathy-developmental delay syndrome
ORPHA:496790DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)36
Очень частый (80–99%)3
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0008936Axial hypotonia
Частый (30–79%)6
HP:0001257Spasticity
HP:0002064Spastic gait
HP:0002151Increased circulating lactate concentration
HP:0002465Poor speech
HP:0003477Peripheral axonal neuropathy
HP:0007210Lower limb amyotrophy
Периодический (5–29%)25
HP:0000028Cryptorchidism
HP:0000276Long face
HP:0000303Mandibular prognathia
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000490Deeply set eye
HP:0000518Cataract
HP:0000545Myopia
HP:0000565Esotropia
HP:0000582Upslanted palpebral fissure
HP:0000609Optic nerve hypoplasia
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000768Pectus carinatum
HP:0000823Delayed puberty
HP:0001272Cerebellar atrophy
HP:0001385Hip dysplasia
HP:0001639Hypertrophic cardiomyopathy
HP:0002066Gait ataxia
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0003196Short nose
HP:00035353-Methylglutaconic aciduria
HP:0005656Positional foot deformity
HP:0011968Feeding difficulties
Очень редкий (1–4%)2
HP:0001250Seizure
HP:0007957Corneal opacity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)