Congenital multicore myopathy with external ophthalmoplegia
ORPHA:98905Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Частый (30–79%)19
HP:0000544External ophthalmoplegia
HP:0001270Motor delay
HP:0001290Generalized hypotonia
HP:0001324Muscle weakness
HP:0001558Decreased fetal movement
HP:0002058Myopathic facies
HP:0002795Abnormal respiratory system physiology
HP:0003327Axial muscle weakness
HP:0003557Increased variability in muscle fiber diameter
HP:0003560Muscular dystrophy
HP:0003701Proximal muscle weakness
HP:0003803Type 1 muscle fiber predominance
HP:0009025Increased connective tissue
HP:0010628Facial palsy
HP:0011805Abnormal skeletal muscle morphology
HP:0011807Type 1 muscle fiber atrophy
HP:0011968Feeding difficulties
HP:0031237Internally nucleated skeletal muscle fibers
HP:0100293Muscle fiber hypertrophy
Периодический (5–29%)25
HP:0001382Joint hypermobility
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000054Micropenis
HP:0000218High palate
HP:0000275Narrow face
HP:0000508Ptosis
HP:0000969Edema
HP:0001349Facial diplegia
HP:0001371Flexion contracture
HP:0001561Polyhydramnios
HP:0002090Pneumonia
HP:0002205Recurrent respiratory infections
HP:0002650Scoliosis
HP:0002878Respiratory failure
HP:0003202Skeletal muscle atrophy
HP:0003547Shoulder girdle muscle weakness
HP:0003798Nemaline bodies
HP:0008850Severe postnatal growth retardation
HP:0009046Difficulty running
HP:0010804Tented upper lip vermilion
HP:0011399Tibialis atrophy
HP:0012036Sternocleidomastoid amyotrophy
HP:0031139Frog-leg posture
HP:0040191Rectus femoris muscle atrophy
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)