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GENATLAS PHENOTYPE

last update : 17-03-2021

Symbol	PNRIID
Location	21q22.3
Name	peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
Corresponding gene	MCM3AP
Main clinical features	early childhood-onset neurologic disorder characterized by slowly progressive distal motor impairment resulting in gait difficulties, often with loss of ambulation, and difficulties using the hands additional features may include eye movement abnormalities, claw hands, foot deformities, and scoliosis electrophysiologic testing and sural nerve biopsy are most compatible with an axonal motor neuropathy
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

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