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Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
rareThis syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.
- Identifiers
- MONDO:0017924 Orphanet:3240
- Part of
- Syndromic disease
- Also known as
- Yoshimura-Takeshita syndrome
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