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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36
617950
OMIM = Online Mendelian Inheritance of Men
28S ribosomal protein S2, mitochondrial
9q34.3
very rare
autosomal recessive
mutation in the MRPS2 gene
Laboratory findings   2-Oxoglutaric acid inc (urine)
    Alanine inc (plasma)
    L-Lactic acid inc (serum)
Symptoms    developmental delay
    dysmorphism
    failure to thrive
    hearing defect, deafness
    hypoglycemia
    hypotonia
    intellectual disability/intellectual developmental disorder
    onset, infancy
    onset, neonatal
    speech development, delayed, abnormal