severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency
ORPHA: 438178
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 severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency, sourced from HPO and Orphanet clinical annotations.
Progressive microcephalyJuvenile cataractIntellectual disabilitySeizureGlobal developmental delaySpastic tetraparesisGrowth delayAbnormal facial shapeShort statureThin upper lip vermilionHypertelorismSmooth philtrumLong philtrumMacrotiaPtosisCerebellar atrophyDandy-Walker malformationInability to walkHighly arched eyebrowShort noseDifficulty standingDepressed nasal bridge
Classification & Codes
Orphanet Code
ORPHA:438178severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency
| Orphanet | ORPHA:438178 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO