Inherited congenital spastic tetraplegia

Go to external page http://www.orpha.net/ORDO/Orphanet_210141


Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.

Synonyms:

Inherited congenital spastic quadriplegia

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210141
hasDbXref
  • ICD-10:G82.4
  • OMIM:617008
  • OMIM:612900
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409945
  • http://www.orpha.net/ORDO/Orphanet_409944
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409939
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409979
notation
  • ORPHA:210141
part of
  • http://www.orpha.net/ORDO/Orphanet_71859
  • http://www.orpha.net/ORDO/Orphanet_98006
present in
  • http://www.orpha.net/ORDO/Orphanet_409991