Disease & disorder
central nervous system calcification-deafness-tubular acidosis-anemia syndrome
MONDO:0017924
This 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.
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to central nervous system calcification-deafness-tubular acidosis-anemia syndrome. Results are keyword matches, not yet verified disease-to-outbreak relationships.
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Background context
central nervous system calcification-deafness-tubular acidosis-anemia syndrome
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.