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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18
615578
OMIM = Online Mendelian Inheritance of Men
391348
Sideroflexin-4
10q26.11
E88.8
rare
autosomal recessive
mutation in the SFXN4 gene
Laboratory findings    Ammonia inc (blood)
    L-Lactic acid inc (plasma)
Symptoms    anemia
    blindness, visual loss, visual impairment
    growth retardation, poor growth
    hyperammonemia
    hypotonia
    intellectual disability/intellectual developmental disorder
    intrauterine growth retardation
    lactic acidosis
    muscle atrophy
    onset, infancy
    onset, neonatal
    tremor or twitching