isolated sedoheptulokinase deficiency
ORPHA: 440713
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 isolated sedoheptulokinase deficiency, sourced from HPO and Orphanet clinical annotations.
Flexion contractureArthrogryposis multiplex congenitaNeonatal asphyxiaInguinal herniaRenal insufficiencyAbnormal renal tubule morphologyLarge fontanellesMacrocephalyHigh foreheadShallow orbitsHypotelorismHip dysplasiaCholestasisPortal hypertensionDiastasis rectiBreech presentationAnemiaVentriculomegalySteatorrheaCholestatic liver diseaseShort statureHypochromic microcytic anemiaSevere postnatal growth retardationAbnormal CNS myelinationPostprandial hyperglycemiaHepatitisSubcortical cerebral atrophyAbnormality of globe location
Classification & Codes
Orphanet Code
ORPHA:440713isolated sedoheptulokinase deficiency
| Orphanet | ORPHA:440713 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO