Antenatal multiminicore disease with arthrogryposis multiplex congenita
ORPHA:178148Clinical subtypeAntenatal
Фенотипы (HPO)21
Частый (30–79%)20
HP:0000028Cryptorchidism
HP:0000218High palate
HP:0000268Dolichocephaly
HP:0000369Low-set ears
HP:0000426Prominent nasal bridge
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000954Single transverse palmar crease
HP:0001371Flexion contracture
HP:0001591Bell-shaped thorax
HP:0002093Respiratory insufficiency
HP:0002194Delayed gross motor development
HP:0002650Scoliosis
HP:0002792Reduced vital capacity
HP:0002804Arthrogryposis multiplex congenita
HP:0003327Axial muscle weakness
HP:0003789Minicore myopathy
HP:0008050Abnormality of the palpebral fissures
HP:0030084Clinodactyly
HP:0100297Increased endomysial connective tissue
Периодический (5–29%)1
HP:0002808Kyphosis
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)