homocystinuria without methylmalonic aciduria
ORPHA: 622
Overview
v1)
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 homocystinuria without methylmalonic aciduria, sourced from HPO and Orphanet clinical annotations.
Visual impairmentNystagmusPsychosisDementiaSeizureAtaxiaHypotoniaLethargyGlobal developmental delayFailure to thriveMegaloblastic bone marrowVomitingCerebral cortical atrophy
Classification & Codes
Orphanet Code
ORPHA:622homocystinuria without methylmalonic aciduria
| Orphanet | ORPHA:622 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO