- Source: X-linked sideroblastic anemia and spinocerebellar ataxia
X-linked sideroblastic anemia and spinocerebellar ataxia is a very rare genetic disorder which is characterized by mild sideroblastic anemia, and spinocerebellar ataxia that either doesn't progress or does so very slowly. Additional findings include dysarthria, tremors and eye movement anomalies. It is caused by X-linked recessive mutations in the ABCB7 gene in chromosome X. Only 4 families with the disorder have been described in medical literature.
References
Kata Kunci Pencarian:
- X-linked sideroblastic anemia and spinocerebellar ataxia
- Sideroblastic anemia
- Spinocerebellar ataxia
- List of diseases (A)
- List of diseases (S)
- List of OMIM disorder codes
- ABCB7
- List of genetic disorders
- Chromosome 6
