Disease #02920 (SCA-28 (ataxia, spinocerebellar, type 28 (SCA-28)), OMIM:610246)

Official abbreviation SCA-28
Name ataxia, spinocerebellar, type 28 (SCA-28)
OMIM ID 610246
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 5
Phenotype entries for this disease 4
Associated with 1 gene AFG3L2
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Disease features -
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Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00111191 - PubMed: Cagnoli 2006 4-generation family, 14 affecteds (6F, 8M) F - - - - 0 - - SCA-28 - AFG3L2 AFG3L2 1 14 Jacopo Celli
00111192 - PubMed: Di Bella 2010 3-generation family, 8 affecteds (4F, 4M) - - - - - 0 - - SCA-28 ADCA type 1 phenotype AFG3L2 AFG3L2 1 8 Jacopo Celli
00111193 - PubMed: Di Bella 2010 3-generation family, 2 affecteds (2M) - - - - - 0 - - SCA-28 - AFG3L2 AFG3L2 1 2 Jacopo Celli
00111194 - PubMed: Di Bella 2010 2-generation family, 2 affecteds (2M) - - - - - 0 - - SCA-28 - AFG3L2 AFG3L2 1 2 Jacopo Celli
00111195 - PubMed: Di Bella 2010 fully symptomatic index patient F - - - - 0 - - SCA-28 - AFG3L2 AFG3L2 1 1 Jacopo Celli
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