hereditary cryohydrocytosis with reduced stomatin
MeSH: C563840ORPHA: 168577
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 hereditary cryohydrocytosis with reduced stomatin, sourced from HPO and Orphanet clinical annotations.
CataractJaundiceIntellectual disabilitySeizureGlobal developmental delayHepatosplenomegalyIncreased intracellular sodiumStomatocytosisSpontaneous hemolytic crisesPostnatal growth retardationHypoglycorrhachiaMicrocephalyMacrocephalyMacrotiaShort neckBroad neckNystagmusBrachydactylyAtaxiaSpastic paraplegiaHypertoniaCommunicating hydrocephalusRecurrent infectionsConjugated hyperbilirubinemiaShort statureIntracerebral periventricular calcificationsShort thoraxZonular cataractCerebral white matter hypoplasiaDelayed myelinationDecreased thalamic volumeAbnormality of movement
Classification & Codes
MeSH Code
C563840Orphanet Code
ORPHA:168577hereditary cryohydrocytosis with reduced stomatin
| MeSH | C563840 |
| Orphanet | ORPHA:168577 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO