has material basis in germline mutation in ABCB7 X-linked sideroblastic anemia with ataxia https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/spinocerebellar_ataxia_x_linked_6_with_or_without_sideroblastic_anemia https://www.malacards.org/card/x_linked_sideroblastic_anemia_with_ataxia ASAT MESH:C536358 OMIM:301310 DOID:0060064 XLSA-A anemia, sideroblastic, and spinocerebellar ataxia X-linked sideroblastic anemia and spinocerebellar ataxia anaemia sideroblastic and spinocerebellar ataxia Pagon-Bird-Detter syndrome GARD:0000668 X-linked sideroblastic Anaemia and ataxia X-linked sideroblastic anemia with ataxia anemia, Sex-linked hypochromic Siderobla X-linked sideroblastic anaemia with spinocerebellar ataxia DOID:0050554 anemia, sideroblastic, with ataxia, X-linked recessive sideroblastic anaemia with spinocerebellar ataxia MONDO:0010524 X-linked sideroblastic anaemia and spinocerebellar ataxia sideroblastic anemia with spinocerebellar ataxia Orphanet:2802 X-linked sideroblastic anemia with spinocerebellar ataxia UMLS:C1845028 Pagon Bird Detter syndrome X-linked sideroblastic Anemia and ataxia SCTID:719816006 A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. MEDGEN:335078 Xlsa-A X-linked cerebellar ataxia inherited sideroblastic anemia X-linked sideroblastic anemia 1 mitochondrial disease