spastic quadriplegic cerebral palsy

Summary
Synonym
  • inherited congenital spastic quadriplegia
  • inherited congenital spastic tetraplegia
  • quadriplegic infantile cerebral palsy
  • spastic quadriplegia
  • tetraplegic infantile cerebral palsy
Definition
A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking.
Super Class
spastic cerebral palsy
External Links
Disease Ontology
DOID:10970
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying entries 1 - 10 of 40 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
224 ALDH3A2 aldehyde dehydrogenase 3 family member A2
250 ALPP alkaline phosphatase, placental
410 ARSA arylsulfatase A
414 ARSD arylsulfatase D
847 CAT catalase
1576 CYP3A4 cytochrome P450 family 3 subfamily A member 4
1591 CYP24A1 cytochrome P450 family 24 subfamily A member 1
1946 EFNA5 ephrin A5
2571 GAD1 glutamate decarboxylase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024