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Summary
SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE (SMDS)
METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL
250220
OMIM = Online Medalian Inheritance of Men
93317
19p13.3
very rare
autosomal recessive
mutation in the GPX4 gene
symptoms
atrial septal defect
cardiac arrhythmia, dysrhythmia
cerebellar atrophy or hypoplasia
dysmorphism
early death
hypotonia
lissencephaly
metaphyseal dysplasia
myelination, incomplete, hypomyelination
onset, infancy
onset, neonatal
short stature
skeletal changes, skeletal abnormalities
laboratory finding
MRI, brain, abnormalities -
Literature
Kim YA,et al.The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigationKorean J Pediatr6012408-4122017
Shinwari ZMA,et al.The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 MutationCardiology1373188-1922017
Hildick-Smith GJ,et al.Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4Am J Hum Genet935906-9142013
Akawi NA,et al.A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvementOrphanet J Rare Dis1111392016
Liew HM,et al.Transient Neonatal Zinc Deficiency Caused by a Novel Mutation in the SLC30A2 GenePediatr Dermatol342e104-1052017
Haack TB,et al.ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathyAm J Hum Genet932211-2232013