eprs1 Phenotypes

Phenotypes

XB-GENEPAGE-966790

Gene Symbol: eprs1 Gene Name: glutamyl-prolyl-tRNA synthetase 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (26 sources): Abnormal pyramidal sign, Amblyopia, Ataxia, Athetosis, Cerebellar atrophy, Cerebral atrophy, Cognitive impairment, Developmental regression, Dysphagia, Dystonia, Failure to thrive, Feeding difficulties, Global developmental delay, Hypermetropia, Hypoplasia of the corpus callosum, Inability to walk, Intention tremor, Leukodystrophy, Microcephaly, Nystagmus, Optic atrophy, Progressive visual loss, Seizure, Sensorineural hearing impairment, Short stature, Spasticity [+]
Mouse (18 sources): abnormal adipose tissue physiology, abnormal embryo size, decreased abdominal adipose tissue amount, decreased brown adipose tissue amount, decreased susceptibility to diet-induced obesity, decreased white fat cell size, embryonic lethality prior to organogenesis, embryonic lethality prior to tooth bud stage, enhanced lipolysis, extended life span, homeostasis/metabolism phenotype, increased carbon dioxide production, increased energy expenditure, increased fatty acid beta-oxidation, increased insulin sensitivity, increased oxygen consumption, no abnormal phenotype detected, preweaning lethality, complete penetrance [+]
View all ortholog results at Monarch