Disease #05685 (SCAR23 (ataxia, spinocerebellar, autosomal recessive, type 23 (SCAR23)), OMIM:616949)

Official abbreviation SCAR23
Name ataxia, spinocerebellar, autosomal recessive, type 23 (SCAR23)
OMIM ID 616949
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease -
Phenotype entries for this disease -
Associated with 1 gene TDP2
Associated tissues -
Disease features onset infancy-childhood, cerebellar ataxia (HP:0001251), cerebellar atrophy (HP:0001272), no peripheral neuropathy (-HP:0009830), no muscle weakness (-HP:0001324), developmental delay (HP:0001263), seizures (HP:0001250), no hyporeflexia (-HP:0001265), cognitive impairment (HP:0100543), no oculomotor apraxia (-HP:0000657), no dystonia (-HP:0001332)
Remarks -
Date created 2020-01-23 14:49:07 +01:00 (CET)
Date last edited 2024-09-10 21:07:12 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.