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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 COXPD39
618397
OMIM = Online Medalian Inheritance of Men
565624
5q13.3
very rare
autosomal recessive
mutation in the GFM2 gene
symptoms
abnormal movement
arthrogryposis
contractures, joints
developmental delay
drooling
dysarthria
dystonia
hypertonia, spasticity
hypoglycemia
hypotonia
intrauterine growth retardation
microcephaly (<2 SD for age)
onset, fetus
onset, infancy
onset, neonatal
seizures
speech development, delayed, abnormal
laboratory finding
MRI, brain, abnormalities -
L-Lactic acid mmol/lserum
L-Lactic acid mmol/lcerebrospinal fluid
Literature