Peripheral neuropathy recessive with or without impaired intellectual development (PNRIID)

OMIM number: 618124

Comments closing date: 09/07/2026

PNRIID stands for Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development. It is a rare autosomal recessive, multisystem disorder caused by biallelic variants in the MCM3AP gene. It presents as an early childhood-onset neurologic disorder characterised by slowly progressive distal motor impairment resulting in gait difficulties, often with loss of ambulation, and difficulties using the hands. Most affected individuals also have impaired intellectual development, although some have normal cognition. Electrophysiologic testing and sural nerve biopsy are most compatible with an axonal motor neuropathy; some patients may show signs of demyelination. Additional features may include eye movement abnormalities, claw hands, foot deformities, and scoliosis.

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