Neuropathy, Hereditary Sensory and Autonomic, Type IX, with Developmental Delay

Alternative Names

  • HSAN9
  • Spastic Paraplegia 49, Autosomal Recessive
  • SPG49
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WHO-ICD-10 version:2010

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

OMIM Number

615031

Mode of Inheritance

Autosomal recessive

Gene Map Locus

14q32.31

Description

Hereditary sensory and autonomic neuropathy type IX with developmental delay (HSAN9) is an autosomal recessive neurodevelopmental and neurodegenerative disorder. Clinical features include global developmental delay and intellectual disability, axial and appendicular hypotonia, dysarthria, and an abnormal gait that is often described as ataxic. Other features may include peripheral neuropathy, hyporeflexia, and autonomic dysfunction. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615031.1.1United Arab EmiratesMaleYesYes Global developmental delay; Developmenta... NM_014844.5:c.3418T>GHomozygousAutosomal, RecessiveNeuser et al. 2021 Proband
615031.1.2United Arab EmiratesFemaleYesYes Global developmental delay; Hypotonia... NM_014844.5:c.3418T>GHomozygousAutosomal, RecessiveNeuser et al. 2021 Sister of 615031.1.1
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