X-linked sideroblastic anemia with ataxia
ORPHA: 2802
Overview
Human disease
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 X-linked sideroblastic anemia with ataxia, sourced from HPO and Orphanet clinical annotations.
AtaxiaAnemiaGait ataxiaAbnormal speech patternIncreased erythrocyte protoporphyrin concentrationDelayed ability to walkStrabismusNystagmusDelayed speech and language developmentDysarthriaHyperreflexiaBrisk reflexesSideroblastic anemiaPostural instabilityDelayed gross motor developmentHypochromic microcytic anemiaAnisocytosisAutismHypotoniaCerebellar atrophyDysmetriaGrowth delayDysdiadochokinesisPoikilocytosisPappenheimer bodiesIncreased bone marrow ironCryptorchidismDepressionSeizureOrganic aciduriaCognitive impairmentSchizophrenia
Classification & Codes
Orphanet Code
ORPHA:2802X-linked sideroblastic anemia with ataxia
| Orphanet | ORPHA:2802 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO