Targeted gene under study:
SNX14 (OMIM * 616105, # 616354; ORPHA: 397709)
Abstract
SNX14-related autosomal recessive spinocerebellar ataxia is a neurodevelopmental disorder characterized by severely delayed neurodevelopment with poor or absent speech, wide-based or absent gait, coarse facies, and progressive cerebellar atrophy. Here, we collect data for a genotype-phenotype correlation study, especially regarding the spectrum of movement disorders.
Coordinating clinicians
Hormos Dafsari – hormos.dafsari@uk-koeln.de
Institution
Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes