Home Page
References OMIM Gene GeneReviews HGMD HGNC
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
    mental retardation
    Type disease
  • 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))