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disease: Spastic paraplegia 11, autosomal recessive

id3739
nameSpastic paraplegia 11, autosomal recessive
descriptionSpastic paraplegia 11 (SPG11) is characterized by progressive spasticity and weakness of the lower limbs frequently associated with the following: mild intellectual disability with learning difficulties in childhood and/or progressive cognitive decline; peripheral neuropathy; pseudobulbar involvement; and increased reflexes in the upper limbs. Less frequent findings include: cerebellar signs (ataxia, nystagmus, saccadic pursuit); retinal degeneration; pes cavus; scoliosis; and parkinsonism. Onset occurs mainly during infancy or adolescence (range: age 1-31 years). Most affected individuals become wheelchair bound one or two decades after disease onset.
variant-disease NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) AND Spastic paraplegia 11, autosomal recessive
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) AND Spastic paraplegia 11, autosomal recessive
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) AND Spastic paraplegia 11, autosomal recessive
NM_025137.4(SPG11):c.1603-139= AND Spastic paraplegia 11, autosomal recessive
NM_025137.4(SPG11):c.1845_1846del (p.Ser616fs) AND Spastic paraplegia 11, autosomal recessive
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