Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy

Alternative Names

  • IDDSAPN
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WHO-ICD-10 version:2010

Mental and behavioural disorders

Disorders of psychological development

OMIM Number

619099

Mode of Inheritance

Autosomal recessive

Gene Map Locus

14q21.3

Description

Intellectual developmental disorder with speech delay and axonal peripheral neuropathy (IDDSAPN) is an autosomal recessive neurologic disorder characterized by mild global developmental delay with motor impairment and severe speech delay apparent in the first years of life. Affected individuals begin to walk independently between 3 and 4 years of age, but often have an unsteady or ataxic gait. Most patients have progressive distal muscle weakness and atrophy of the lower limbs, foot or hand deformities, and dysarthria, consistent with a peripheral neuropathy. There is mildly impaired intellectual development. Some patients may have behavioral anomalies, such as autistic features or attention deficit-hyperactivity disorder (ADHD), and some can attend special schools. The overall clinical features indicate involvement of both the central and peripheral nervous systems. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
619099.1.1SyriaMaleYes Intellectual disability; Global developm...NM_004713.6:c.2608C>THomozygousAutosomal, RecessiveMartin et al. 2020 Patient from 'family...
619099.2.1Saudi ArabiaMaleYesYes Intellectual disability; Global developm...NM_004713.6:c.2871_2875dupHomozygousAutosomal, RecessiveMartin et al. 2020 Patient from 'family...
619099.2.2Saudi ArabiaMaleYesYes Intellectual disability; Global developm...NM_004713.6:c.2871_2875dupHomozygousAutosomal, RecessiveMartin et al. 2020 Brother of 619099.2....
619099.3.1EgyptFemaleYesYes Intellectual disability; Global developm...NM_004713.6:c.2517_2520delHomozygousAutosomal, RecessiveAnazi et al. 2016
619099.3.2EgyptMaleYesYes Intellectual disability; Global developm...NM_004713.6:c.2517_2520delHomozygousAutosomal, RecessiveAnazi et al. 2016 Brother of 619099.3....
619099.4.1Saudi ArabiaFemaleYes Intellectual disability; Delayed speech ...NM_004713.6:c.574+1G>THomozygousAutosomal, RecessiveAhmed et al. 2021 Patient from 'family...
619099.5.1Saudi ArabiaFemaleYes Intellectual disability; Delayed speech ...NM_004713.6:c.1234_1235insCHomozygousAutosomal, RecessiveAhmed et al. 2021 Patient from 'family...
619099.6.1Saudi ArabiaMaleYes Intellectual disability; Delayed speech ...NM_004713.6:c.1234_1235insCHomozygousAutosomal, RecessiveAhmed et al. 2021 Patient from 'family...
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