Human (70 sources):
Abnormal circulating enzyme concentration or activity,
Abnormal facial shape,
Abnormality of the knee,
Abnormal synaptic transmission at the neuromuscular junction,
Areflexia,
Axial muscle weakness,
Bilateral ptosis,
Blindness,
Decreased size of nerve terminals,
Diffuse mesangial sclerosis,
Distal muscle weakness,
Dysphagia,
Easy fatigability,
Edema,
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation,
Exertional dyspnea,
Facial palsy,
Frequent falls,
Generalized hypotonia,
Generalized muscle weakness,
Global developmental delay,
Hand muscle weakness,
High palate,
Hypoplasia of the ciliary body,
Hypoplasia of the iris,
Hypoproteinemia,
Hyporeflexia,
Hypotonia,
Hypoventilation,
Impaired mastication,
Intellectual disability,
Limited extraocular movements,
Limited wrist extension,
Mandibular prognathia,
Microcoria,
Muscle weakness,
Myopathy,
Myopia,
Neck muscle weakness,
Neonatal respiratory distress,
Nephrotic syndrome,
Nystagmus,
obsolete Psychomotor retardation,
Ophthalmoparesis,
Poor head control,
Poor suck,
Posterior lenticonus,
Prolonged miniature endplate currents,
Proteinuria,
Proximal muscle weakness,
Ptosis,
Pulmonary arterial hypertension,
Recurrent lower respiratory tract infections,
Respiratory distress,
Respiratory insufficiency,
Right ventricular hypertrophy,
Scapular winging,
Scoliosis,
Skeletal muscle atrophy,
Sleep apnea,
Slow pupillary light response,
Stage 5 chronic kidney disease,
Strabismus,
Talipes equinovarus,
Triangular mouth,
Type 1 muscle fiber predominance,
Type 2 muscle fiber atrophy,
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors,
Waddling gait,
Weak cry
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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.