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alg2 in Homo sapiens | Mus musculus | Rattus norvegicus | All 692 Gene records
See alg2 in MedGen (2)
ALG2-congenital disorder of glycosylation
Congenital disorder of glycosylation type Ii (CDG1I) is a rare autosomal recessive disorder characterized by neurologic involvement, including a convulsive syndrome of unknown origin, axial hypotonia, and mental and motor regression (summary by Papazoglu et al., 2021). For a general discussion of CDGs, see CDG1A (212065). [from OMIM]
Congenital myasthenic syndrome 14
Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by Cossins et al., 2013). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]
Congenital disorder of glycosylation type I
A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. [from MONDO]
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