hypotonia-cystinuria syndrome
ORPHA: 163690
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 hypotonia-cystinuria syndrome, sourced from HPO and Orphanet clinical annotations.
DolichocephalyRetrognathiaEpicanthusPtosisNephrolithiasisHypotoniaFailure to thriveGrowth delayDecreased fetal movementHypernasal speechFrontal bossingPolyphagiaCystinuriaFatigue
Classification & Codes
Orphanet Code
ORPHA:163690hypotonia-cystinuria syndrome
| Orphanet | ORPHA:163690 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO