Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 07-09-2020
Location 18q21.31
Name microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia
Corresponding gene NARS1
Main clinical features
  • global developmental delay (GDD) and intellectual disability, which varied in severity from moderate to profound with delays in language developmentand motor development
  • microcephaly was observed in the majority of cases (predominantly primary microcephaly and epilepsy is highly associated (partial, myoclonic, and generalized tonic-clonic seizures) ; an ataxic gait, poor balance, and dysarthria were frequent
  • demyelinating peripheral neuropathy occurred in any cases with distal leg muscle atrophy; dysmorphic features described included abnormal hands (e.g., clinodactyly, fetal finger pad, two-to-three-toe syndactyly, slender fingers) and/or feet (e.g., small feet, toe syndactyly, slender feet), and facail dysmorphy
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    Type disease
    Remark(s) . majority of NARS1 mutations cause likely a loss of the enzymatic protein by reduced expression and disruption of dimer formation (PMID: 32738225))