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GENATLAS PHENOTYPE
last update : 31-05-2016
Symbol MRPP1D
Location 3q12.3
Name mitochondrial RNase P protein 1 deficiency
Corresponding gene TRMT10C
Main clinical features
  • hypotonia, poor sucking, and feeding difficulties evident from early in the neonatal period, sensorineural deafness; elevated blood lactate levels, and early death
  • Genetic determination autosomal recessive
    Function/system disorder multisystem/generalized
    Type disease
    Remark(s)
  • loss of TRMT10C protein level correlates with decreased steady-state levels of subunits of complex I (NDUFB8) and complex IV (COXI) (PMID: 27132592))