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GENATLAS PHENOTYPE
last update : 27-05-2009
Symbol CTMHD
Location 16p13.3
Name congenital cataract, muscular hypotonia, sensorineural hearing loss, and developmental delay
Corresponding gene GFER
Main clinical features
  • axial hypotonia and congenital cataract during the first month of life
  • severe progressive hearing loss and bilateral ptosis, generalized muscular hypotonia and hypotrophy, especially in the lower limbs
  • at biochemical studies a consistent moderate reduction of complex IV activity in multiple tissues
  • Genetic determination autosomal recessive
    Function/system disorder ear
    eye
    mental retardation
    neuromuscular
    Type disease
    Remark(s)
  • missense mutation in the GFER gene affecting a conserved residue, and associated with altered protein localization in patient myoblasts and a reduction in the protein level in mitochondrial fractions (PMID: 19409522))
  • R194H mutation, having a severe impacton the conformational stability of both long and short forms of GFER (PMID: 20593814))