Visit Metagene.de!
Summary
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 (EIEE35)
616647
OMIM = Online Medalian Inheritance of Men
457375
20p13
rare
autosomal recessive
mutation in the ITPA gene
symptoms
cardiomyopathy
cardiomyopathy, dilated
cataract
cerebral atrophy
developmental delay
early death
encephalopathy
epilepsy
feeding difficulties, poor feeding
growth retardation, poor growth
hypotonia
intrauterine growth retardation
microcephaly (<2 SD for age)
myelination, incomplete, hypomyelination
onset, infancy
onset, neonatal
seizures
laboratory finding
MRI, brain, abnormalities -
Literature
Cho JS,et al.FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathyEpilepsy Res1290118-1242017
Vantroys E,et al.New insights into the phenotype of FARS2 deficiencyMol Genet Metab1224172-1812017
Walker MA,et al.Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked DiseaseJ Child Neurol3191127-11372016