Spastic Paraplegia 50, Autosomal Recessive

Alternative Names

  • SPG50
  • Cerebral Palsy, Spastic Quadriplegic, 3
  • CPSQ3
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WHO-ICD-10 version:2010

Diseases of the nervous system

Cerebral palsy and other paralytic syndromes

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



Spastic paraplegia-50 (SPG50) is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severely impaired intellectual development with poor or absent speech development. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
612936.1Saudi Arabia Microcephaly; Delayed speech and languag...NM_004722.4:c.952C>THomozygousAutosomal, RecessiveAlazami et al. 2015
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