SLC39A8-CDG
ORPHA: 468699
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 SLC39A8-CDG, sourced from HPO and Orphanet clinical annotations.
Profound intellectual disabilitySevere muscular hypotoniaAbnormal blood zinc concentrationType II transferrin isoform profileProfound global developmental delayHypomanganesemiaStrabismusSeizureCerebellar atrophyFailure to thrive in infancyCerebral cortical atrophyPoor head controlInability to walkShort statureVisual fixation instabilityHearing impairmentLow-set earsAstigmatismHypermetropiaNystagmusOsteopeniaDystoniaHyperreflexiaCraniosynostosisAbnormality of the liverVentriculomegalyPoor speechIncreased CSF lactateHypsarrhythmiaRecurrent infectionsSudden episodic apneaDecreased activity of the pyruvate dehydrogenase complexElbow flexion contractureKnee flexion contractureDecreased mitochondrial complex III activity in liver tissueDecreased activity of mitochondrial complex IIDecreased activity of mitochondrial complex IVDisproportionate short-limb short statureLimb undergrowthCutaneous syndactyly of toesFlat face
Classification & Codes
Orphanet Code
ORPHA:468699SLC39A8-CDG
| Orphanet | ORPHA:468699 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO