Disease #02265

Official abbreviation SMAX-1;SBMA
Name atrophy, muscular, spinal and bulbar, Kennedy type (SMAX-1, SBMA)
OMIM ID 313200
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 11
Phenotype entries for this disease 12
Associated with 1 gene AR
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Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00115536 2062380-FamKD PubMed: La Spada 1991 15 families M - United States - - 0 - - SMAX-1;SBMA genitalia normal; Kennedy Syndrome AR AR 1 15 Bruce Gottlieb
00148560 9724012-Fam1 PubMed: Udd 1998 2-generation family, 1 affected, unaffected carrier female M - Finland - - 0 - - SMAX-1;SBMA see paper; … AR FBXL4 1 1 Johan den Dunnen
00148561 9724012-Fam2 PubMed: Udd 1998 5-generation family, 4 affected, unaffected carrier females M - Finland - - 0 - - SMAX-1;SBMA see paper; … AR FBXL4 1 4 Johan den Dunnen
00148562 9724012-Fam3 PubMed: Udd 1998 4-generation family, 1 affected, unaffected carrier female M - Finland - - 0 - - SMAX-1;SBMA see paper; … AR FBXL4 1 1 Johan den Dunnen
00148563 9724012-Fam4 PubMed: Udd 1998 4-generation family, 1 affected, unaffected carrier female M - Finland - - 0 - - SMAX-1;SBMA see paper; … AR FBXL4 1 1 Johan den Dunnen
00148564 9724012-Fam5 PubMed: Udd 1998 3-generation family, 1 affected, unaffected carrier female M - Finland - - 0 - - SMAX-1;SBMA see paper; … AR FBXL4 1 1 Johan den Dunnen
00148565 9724012-Fam6 PubMed: Udd 1998 3-generation family, 1 affected, unaffected carrier female M - Finland - - 0 - - SMAX-1;SBMA see paper; … AR FBXL4 1 1 Johan den Dunnen
00148566 9724012-Fam7 PubMed: Udd 1998 4-generation family, 2 affecteds, unaffected carrier females M - Finland - - 0 - - SMAX-1;SBMA see paper; … AR FBXL4 1 2 Johan den Dunnen
00148567 9724012-Fam8 PubMed: Udd 1998 3-generation family, 1 affected, unaffected carrier females M - Finland - - 0 - - SMAX-1;SBMA see paper; … AR FBXL4 1 1 Johan den Dunnen
00148568 9724012-Fam9 PubMed: Udd 1998 5-generation family, 2 affecteds, unaffected carrier females M - Finland - - 0 - - SMAX-1;SBMA see paper; … AR FBXL4 1 2 Johan den Dunnen
00148569 9724012-Fam10 PubMed: Udd 1998 4-generation family, 1 affected, unaffected carrier females M - Finland - - 0 - - SMAX-1;SBMA see paper; … AR FBXL4 1 1 Johan den Dunnen
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