neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
ORPHA: 494344
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 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, sourced from HPO and Orphanet clinical annotations.
Abnormal heart morphologyPostnatal growth retardationFeeding difficultiesBrain imaging abnormalityCryptorchidismHypospadiasVesicoureteral refluxAbnormality of the genitourinary systemEpicanthusMicrognathiaPosteriorly rotated earsHearing impairmentChoanal atresiaAnteverted naresAstigmatismStrabismusPtosisMyopiaEsotropiaChorioretinal colobomaMicrophthalmiaExotropiaBlepharophimosisIris colobomaOptic atrophyPeters anomalyAtypical behaviorAutistic behaviorSeizureCerebellar vermis hypoplasiaHip dysplasiaVentricular septal defectAbnormal facial shapeFrontal bossingDysphagiaGastroesophageal refluxPoor suckHypoplasia of the corpus callosumVentriculomegalyScoliosisAttention deficit hyperactivity disorderCNS demyelinationBroad eyebrowAnisometropiaAbnormal cranial nerve physiologyCerebral visual impairmentSelf-injurious behaviorAbnormality of the eyeIntellectual disabilityHypotoniaGlobal developmental delayIntrauterine growth retardation
Classification & Codes
Orphanet Code
ORPHA:494344neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
| Orphanet | ORPHA:494344 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO