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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 COXPD38
613878
OMIM = Online Medalian Inheritance of Men
1q25.1
very rare (1 patient)
autosomal recessive
mutation in the MRPS14 gene
symptoms
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, hypertrophic
defect of walking, running, rising or climbing
developmental delay
dysmorphism
failure to thrive
growth retardation, poor growth
intellectual disability/intellectual developmental disorder (ID/ IDD)
lactic acidosis
onset, fetus
onset, neonatal
respiratory insufficiency
speech development, delayed, abnormal
laboratory finding
L-Lactic acid mmol/lserum
Literature
Chong PF,Nakamura K, Kira RMulberries in the urine: a tell-tale sign of Fabry diseaseJ Inherit Metab Dis002018