Autosomal recessive myogenic arthrogryposis multiplex congenita
ORPHA:319332DiseaseAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)9
HP:0001265Hyporeflexia
HP:0001270Motor delay
HP:0001558Decreased fetal movement
HP:0001776Bilateral talipes equinovarus
HP:0002540Inability to walk
HP:0002804Arthrogryposis multiplex congenita
HP:0008935Generalized neonatal hypotonia
HP:0030200Fatiguable weakness of proximal limb muscles
HP:0430025Bilateral facial palsy
Частый (30–79%)2
HP:0000028Cryptorchidism
HP:0002650Scoliosis
Периодический (5–29%)16
HP:0000276Long face
HP:0000343Long philtrum
HP:0000400Macrotia
HP:0000486Strabismus
HP:0001181Adducted thumb
HP:0001188Hand clenching
HP:0001249Intellectual disability
HP:0001518Small for gestational age
HP:0003391Gowers sign
HP:0005191Congenital knee dislocation
HP:0005280Depressed nasal bridge
HP:0005469Flat occiput
HP:0008897Postnatal growth retardation
HP:0011471Gastrostomy tube feeding in infancy
HP:0012785Flexion contracture of finger
HP:0031729Moderate hypermetropia
Исключён (0%)3
HP:0000252Microcephaly
HP:0001561Polyhydramnios
HP:0040081Abnormal circulating creatine kinase concentration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | Worldwide | Family(ies) |
| 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)