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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))