Autosomal recessive spastic paraplegia-70 (SPG70) is characterized by onset of symptoms in infancy, including delayed walking and difficulties walking due to spasticity of the lower limbs; upper limbs may also be involved. Additional features may include global developmental delay with variably impaired intellectual development, speech delay, feeding difficulties, and dysmorphic facial features (Okamoto et al., 2022). [from OMIM]
Also known as: CMT2U, ILFS2, ILLD, MARS, METRS, MRS, MTRNS, SPG70, TTD9, MARS1
Summary: methionyl-tRNA synthetase 1
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