Intellectual Developmental Disorder with or without Peripheral Neuropathy

Alternative Names

  • IDDPN

Associated Genes

Nudix Hydrolase 2
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WHO-ICD-10 version:2010

Diseases of the nervous system

OMIM Number

619844

Mode of Inheritance

Autosomal recessive

Gene Map Locus

9p13.3

Description

Intellectual developmental disorder with or without peripheral neuropathy (IDDPN) is an autosomal recessive neurologic disorder characterized 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. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
619844.G.1Saudi ArabiaFemaleYesYes Intellectual disability; Hypotonia; Unst...NM_001161.5:c.34C>THomozygousAutosomal, RecessiveAnazi et al. 2017a Two sisters
619844.G.2Saudi ArabiaYes Hypotonia; Intellectual disability, bord...NM_001161.5:c.34C>THomozygousAutosomal, RecessiveYavuz et al. 2018 Five patients (three...
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