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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39; COXPD39

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39; COXPD39
618397
OMIM = Online Mendelian Inheritance of Men
565624
Ribosome-releasing factor 2, mitochondrial
5q13.3
very rare
autosomal recessive
mutation in the GFM2 gene
Laboratory findings    L-Lactic acid inc (serum)
    L-Lactic acid inc (cerebrospinal fluid)
Symptoms    abnormal movement
    arthrogryposis
    contractures, joints
    developmental delay
    drooling
    dysarthria
    dystonia
    hypertonia, spasticity
    hypoglycemia
    hypotonia
    intrauterine growth retardation
    microcephaly (<2 SD for age)
    MRI, brain, abnormalities [-]
    onset, fetus
    onset, infancy
    onset, neonatal
    seizures
    speech development, delayed, abnormal