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
- ICD-10:G82.4 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD code is attributed by Orphanet).)
- OMIM:617008 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:612900 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
definition citation
- Orphanet
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