Disease #02212 (ASAT (anemia sideroblastic, and spinocerebellar ataxia (ASAT)), OMIM:301310)

Official abbreviation ASAT
Name anemia sideroblastic, and spinocerebellar ataxia (ASAT)
OMIM ID 301310
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene ABCB7
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00052364 - PubMed: Pagan 1985, PubMed: Allikmets 1999 3-generation family, 4 affected males 9 carrier females M - United States European American - 0 - - ASAT - ABCB7 ABCB7 1 4 Johan den Dunnen
00052366 - PubMed: Maguire 2001 4 affected males M - United Kingdom (Great Britain) Europe, North - 0 - - ASAT - ABCB7 ABCB7 1 4 Johan den Dunnen
00052368 - PubMed: Bekri 2000 family, 2 affected males M - - Caucasian - 0 - - ASAT - ABCB7 ABCB7 1 2 Johan den Dunnen
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