Native American myopathy
ORPHA:168572Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)2
HP:0002058Myopathic facies
HP:0001324Muscle weakness
Частый (30–79%)17
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001488Bilateral ptosis
HP:0001762Talipes equinovarus
HP:0002020Gastroesophageal reflux
HP:0002047Malignant hyperthermia
HP:0002093Respiratory insufficiency
HP:0002803Congenital contracture
HP:0002804Arthrogryposis multiplex congenita
HP:0003202Skeletal muscle atrophy
HP:0004322Short stature
HP:0008458Progressive congenital scoliosis
HP:0010674Abnormality of the curvature of the vertebral column
HP:0011968Feeding difficulties
HP:0012084Abnormality of skeletal muscle fiber size
Периодический (5–29%)10
HP:0000193Bifid uvula
HP:0000218High palate
HP:0000347Micrognathia
HP:0000405Conductive hearing impairment
HP:0000494Downslanted palpebral fissures
HP:0001260Dysarthria
HP:0001315Reduced tendon reflexes
HP:0002714Downturned corners of mouth
HP:0011819Submucous cleft soft palate
HP:0100295Muscle fiber atrophy
Очень редкий (1–4%)5
HP:0000329Facial hemangioma
HP:0001256Intellectual disability, mild
HP:0001382Joint hypermobility
HP:0002540Inability to walk
HP:0012385Camptodactyly
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)