_:vb50939395 "url:https://www.ncbi.nlm.nih.gov/pubmed/18094336"^^ . _:vb50939395 . _:vb50939395 . _:vb50939395 "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42."^^ . _:vb50939395 . _:vb50939395 . _:vb50939395 . _:vb50939395 "url:https://www.ncbi.nlm.nih.gov/pubmed/15192806"^^ .