HSD10 disease, infantile type
ORPHA: 391428
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 HSD10 disease, infantile type, sourced from HPO and Orphanet clinical annotations.
Hyperkinetic movementsLoss of ambulationDiffuse cerebral atrophyGastrointestinal dysmotilityFrontotemporal cerebral atrophyNonprogressive encephalopathySevere intellectual disabilityAbnormality of the lower urinary tractElevated brain lactate level by MRSSpoken word recognition deficitIncreased circulating lactate concentrationIncreased CSF lactateAbnormality of mitochondrial metabolismAbnormal circulating enzyme concentration or activityBlindnessDelayed speech and language developmentSeizureHypotoniaGlobal developmental delayMetabolic acidosisHypoglycemiaCerebral atrophyNeurodegenerationDevelopmental regressionLactic acidosisModerate global developmental delayAbnormal concentration of acylcarnitine in the urineMicrocephalyHearing impairmentRod-cone dystrophyRetinal degenerationVisual lossNystagmusOptic atrophyRestlessnessParoxysmal bursts of laughterCyanosisDysarthriaSpastic diplegiaChoreoathetosisSpastic tetraparesisDystoniaAbsent speechHypertrophic cardiomyopathyCardiomegalyHyperammonemiaAbnormal facial shapeDysphagiaAbnormal basal ganglia morphologyIncoordinationPoor head control
Classification & Codes
Orphanet Code
ORPHA:391428HSD10 disease, infantile type
| Orphanet | ORPHA:391428 |
| Treatments | 0 drug(s) |
| Symptoms on record | 51 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO