Visit Metagene.de!
Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 COXPD17
615440
OMIM = Online Medalian Inheritance of Men
369913
17p12
rare
autosomal recessive
mutation in the ELAC2 gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
congenital heart defect
developmental delay
dysmorphism
early death
failure to thrive
feeding difficulties, poor feeding
growth retardation, poor growth
hearing defect, deafness
heart failure, cardiac failure
hypotonia
intrauterine growth retardation
lactic acidosis
microcephaly (<2 SD for age)
onset, infancy
psychomotor retardation
seizures
laboratory finding
Lactic acid3.00 mmol/lplasma
Orotic acid5.0015.00 mmol/mol creatinineurine
Literature
Wijemanne S,Jankovic JDopa-responsive dystonia--clinical and genetic heterogeneityNat Rev Neurol117414-4242015
Zolotushko J,et al.The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matterEur J Hum Genet199942-9462011
Schaaf CP,et al.Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literatureAm J Med Genet A15571597-16042011
Zhang W,et al.Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosisNeurosci Lett644048-542017