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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 COXPD36
617950
OMIM = Online Medalian Inheritance of Men
9q34.3
very rare
autosomal recessive
mutation in the MRPS2 gene
symptoms
developmental delay
dysmorphism
failure to thrive
hearing defect, deafness
hypoglycemia
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
onset, infancy
onset, neonatal
speech development, delayed, abnormal
laboratory finding
Alanine +€mol/lplasma
L-Lactic acid mmol/lserum
2-Oxoglutaric acid mmol/mol Creaurine
Literature
Kuper WFE,et al.Timing of cognitive decline in CLN3 diseaseJ Inherit Metab Dis412257-2612018