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Summary
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 (MMDS5)
617613
OMIM = Online Medalian Inheritance of Men
9q21.33
very rare
autosomal recessive
mutation in the ISCA1 gene
symptoms
developmental delay
feeding difficulties, poor feeding
growth retardation, poor growth
hyperreflexia
hypertonia, spasticity
leukodystrophy
microcephaly (<2 SD for age)
myelination, incomplete, hypomyelination
onset, infancy
psychomotor retardation
retinopathy
seizures
laboratory finding
Creatine kinase U/lserum
L-Lactic acid mmol/lserum
Literature
Whyte MPHypophosphatasia: An overview For 2017Bone102015-252017