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GENATLAS PHENOTYPE

last update : mct

Symbol	SPG66
Location	5q32
Name	spastic paraplegia-66
Corresponding gene	ARSI
Main clinical features	in early infancy abnormal gait, absent deep tendon reflexes, pes equinovarus, and at brain MRI brain malformation: corpus callosum and/or cerebellar hypoplasia severe sensory motor and polyneuropathy, but no or mild mental retardation
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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