optic atrophy-intellectual disability syndrome
ORPHA: 401777
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 optic atrophy-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Optic atrophyAutistic behaviorIntellectual disabilitySeizureHypotoniaGlobal developmental delayAbnormal facial shapeHypoplasia of the corpus callosumReduced visual acuityEpicanthusHearing impairmentProtruding earProminent nasal bridgeAnteverted naresStrabismusEsotropiaExotropiaUpslanted palpebral fissureOptic nerve hypoplasiaAmblyopiaCompulsive behaviorsVisual field defectTapered fingerAbsent speechShort nasal bridgeAttention deficit hyperactivity disorderOptic disc hypoplasiaRepetitive compulsive behaviorAbnormal helix morphologyCerebral visual impairmentHypermetropiaMyopiaKeratoconusNystagmusSpasticityDelayed skeletal maturationShort statureDelayed myelinationAbnormal hippocampus morphology
Classification & Codes
Orphanet Code
ORPHA:401777optic atrophy-intellectual disability syndrome
| Orphanet | ORPHA:401777 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO