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central nervous system calcification-deafness-tubular acidosis-anemia syndrome

ORPHA: 3240

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with central nervous system calcification-deafness-tubular acidosis-anemia syndrome, sourced from HPO and Orphanet clinical annotations.

Atopic dermatitisSeizureCerebellar hypoplasiaAbsent speechHyperreflexiaGrowth delayGliosisDevelopmental regressionDiffuse cerebral atrophySpastic tetraplegiaHead titubationIncreased circulating ferritin concentrationAbsent brainstem auditory responsesHypochromic microcytic anemiaSubcortical white matter calcificationsVestibular areflexiaAxial hypotoniaThrombocytopeniaVomitingDiarrheaRespiratory failure

Classification & Codes

Orphanet Code

ORPHA:3240
central nervous system calcification-deafness-tubular acidosis-anemia syndrome
OrphanetORPHA:3240
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO