Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
ORPHA: 500545
Overview
rare genetic 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 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, sourced from HPO and Orphanet clinical annotations.
IrritabilitySeizureGlobal developmental delayFailure to thriveFeeding difficulties in infancyFloppy infantStereotypical hand wringingMicrocephalyProfound intellectual disabilitySleep disturbanceHypsarrhythmiaSevere intellectual disabilityBroad nasal tipJuvenile cataractSpasticityFlexion contractureCerebral atrophyDevelopmental regressionScoliosisApneic episodes in infancyCerebral white matter hypoplasiaDelayed myelinationNasogastric tube feeding
Classification & Codes
Orphanet Code
ORPHA:500545Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
| Orphanet | ORPHA:500545 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO