alg2 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (120)

Interactants (5)

XB-GENEPAGE-494528

Gene Symbol: alg2 Gene Name: ALG2, alpha-1,3/1,6-mannosyltransferase

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (53 sources): Abnormal peripheral nervous system synaptic transmission, Abnormality of coagulation, Areflexia, Cataract, Cognitive impairment, Coloboma, Difficulty climbing stairs, Difficulty running, Difficulty walking, Distal joint hypermobility, 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, Global developmental delay, Gowers sign, Hepatomegaly, High palate, Hyperlordosis, Hyperreflexia, Hypotonia, Hypsarrhythmia, Increased jitter at single fiber EMG, Intellectual disability, Iris coloboma, Knee flexion contracture, Limb-girdle muscle weakness, Lumbar hyperlordosis, Mildly elevated creatine kinase, Motor delay, Muscle fiber tubular inclusions, Muscle spasm, Myopathy, Nystagmus, Pes planus, Poor head control, Proximal muscle weakness, Ptosis, Ragged-red muscle fibers, Scapular winging, Scoliosis, Seizure, Type 1 muscle fiber predominance, Visual impairment, Waddling gait, obsolete Joint laxity [+]
Mouse (8 sources): abnormal locomotor activation, convulsive seizures, decreased dermal fibroblast proliferation, decreased fasting circulating glucose level, decreased locomotor activity, embryonic lethality prior to organogenesis, increased lean body mass, preweaning lethality, complete penetrance
View all ortholog results at Monarch