pabpn1 Phenotypes

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Phenotypes

XB-GENEPAGE-1007048

Gene Symbol: pabpn1 Gene Name: poly(A) binding protein, nuclear 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (19 sources): Abnormality of the pharynx, Abnormal muscle fiber morphology, Distal muscle weakness, Dysarthria, Dysphagia, Elevated circulating creatine kinase concentration, Facial palsy, Gait disturbance, Limb muscle weakness, Mask-like facies, Myopathy, Neck muscle weakness, Ophthalmoplegia, Progressive ptosis, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Rimmed vacuoles, Spondylolisthesis [+]
View all ortholog results at Monarch

Monarch Ortholog Phenotypes

These phenotypes are associated with this gene with a has phenotype relation via Monarch.

Human (19 sources): Abnormality of the pharynx, Abnormal muscle fiber morphology, Distal muscle weakness, Dysarthria, Dysphagia, Elevated circulating creatine kinase concentration, Facial palsy, Gait disturbance, Limb muscle weakness, Mask-like facies, [+]

View all ortholog results at Monarch