alg14 Phenotypes

Phenotypes

XB-GENEPAGE-983947

Gene Symbol: alg14 Gene Name: ALG14, UDP-N-acetylglucosaminyltransferase subunit

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (36 sources): Abnormal peripheral nervous system synaptic transmission, Areflexia, Difficulty climbing stairs, Difficulty running, Difficulty walking, Distal muscle weakness, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation, Easy fatigability, Elevated circulating creatine kinase concentration, Facial palsy, Fatigable weakness, Favorable response of weakness to acetylcholine esterase inhibitors, Flexion contracture, Frequent falls, Generalized hypotonia, Generalized weakness of limb muscles, Gowers sign, High palate, Increased jitter at single fiber EMG, Knee flexion contracture, Limb-girdle muscle weakness, Lumbar hyperlordosis, Motor delay, Muscle fiber tubular inclusions, Muscle spasm, Myopathy, Pes planus, Poor head control, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Scapular winging, Scoliosis, Type 1 muscle fiber predominance, Waddling gait, obsolete Joint laxity [+]
Mouse (7 sources): abnormal embryo size, abnormal embryo turning, embryo tissue necrosis, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality prior to organogenesis, failure of blastocyst to hatch from the zona pellucida, preweaning lethality, complete penetrance
View all ortholog results at Monarch