Intellectual Developmental Disorder with or without Peripheral Neuropathy (IDDPN)

Intellectual Developmental Disorder with or without Peripheral Neuropathy (IDDPN)

OMIM number: 619844

Comments closing date: 05/06/2025

Intellectual developmental disorder with or without
peripheral neuropathy (IDDPN) is an autosomal
recessive neurologic disorder characterised by
global developmental delay with mildly impaired
intellectual development apparent from infancy or
early childhood. Affected individuals have
hypotonia and delayed walking with an unsteady
gait and frequent falls. Some patients develop a
progressive length-dependent sensorimotor
peripheral neuropathy. Additional features may
include dysarthria and subtle dysmorphic facial
features.

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