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GENATLAS PHENOTYPE

last update : 12-01-2013

Symbol	NAMSD
Location	Xq26.1
HGNC id	7635
Name	axonal motor-sensory neuropathy, with deafness and mental retardation
Other name(s)	Charcot-Marie-Tooth neuropathy, recessive 4 Charcot-Marie-Tooth with deafness and mental retardation Cowchock syndrome
Corresponding gene	AIFM1
Other symbol(s)	AMSN, CMTX4
Main clinical features	distal weakness, muscle atrophy, sensory loss, areflexia, pes cavus, and hammer toes, deafness, mental retardation or social developmental delay, with motor nerve conduction velocities in affected males normal to mildly delayed, and sensory conduction markedly abnormal
Genetic determination	sex linked
Function/system disorder	neurology
Type	disease

Remark(s)

. missense mutation Glu493Val AIF has slight structural changes and an abnormal propensity to NADH reduction and O2 oxidation, probably because of changes in the FAD protonation state (PMID: 23217327))