Condition: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY


rs587777332 in MIR6890;QARS1 gene and MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY PMID 26869582 2016 The crystal structure of human GlnRS provides basis for the development of neurological disorders.

PMID 24656866 2014 Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

PMID 25432320 2015 Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.

rs587777331 in QARS1 gene and MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY PMID 26869582 2016 The crystal structure of human GlnRS provides basis for the development of neurological disorders.

PMID 24656866 2014 Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.