Human (56 sources):
Ankle flexion contracture,
Bulbar palsy,
Calf muscle hypertrophy,
Centrally nucleated skeletal muscle fibers,
Congenital hip dislocation,
Cryptorchidism,
Decreased fetal movement,
Dilated cardiomyopathy,
Dysphagia,
EMG: myopathic abnormalities,
Elbow flexion contracture,
Facial palsy,
Failure to thrive,
Fatigable weakness of bulbar muscles,
Feeding difficulties,
Flexion contracture of finger,
Generalized muscle weakness,
High palate,
Hip contracture,
Hyperlordosis,
Hypotonia,
Intellectual disability,
Knee flexion contracture,
Kyphoscoliosis,
Limb joint contracture,
Long face,
Lumbar hyperlordosis,
Micrognathia,
Mildly elevated creatine kinase,
Motor delay,
Myopathy,
Narrow face,
Neonatal hypotonia,
Ophthalmoplegia,
Pectus excavatum,
Polyhydramnios,
Poor suck,
Proximal muscle weakness,
Ptosis,
Pulmonary hypoplasia,
Recurrent respiratory infections,
Reduced forced vital capacity,
Reduced tendon reflexes,
Reduced vital capacity,
Respiratory insufficiency,
Respiratory insufficiency due to muscle weakness,
Scapular winging,
Scoliosis,
Short stature,
Talipes equinovarus,
Tented upper lip vermilion,
Type 1 fibers relatively smaller than type 2 fibers,
Type 1 muscle fiber atrophy,
Waddling gait,
Weak cry,
obsolete Joint laxity
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.