TELO2-related intellectual disability-neurodevelopmental disorder
ORPHA: 488642
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 TELO2-related intellectual disability-neurodevelopmental disorder, sourced from HPO and Orphanet clinical annotations.
Abnormal facial shapeGait imbalanceSevere intellectual disabilitySevere global developmental delayPrimary microcephalyHearing impairmentBrachydactylySeizureSpasticityAbsent speechPoor speechInability to walkShort stature4-5 toe syndactylyFloppy infantFeeding difficultiesClinodactylyAbnormal morphology of the great vesselsAbnormality of movementCerebral visual impairmentDuplicated collecting systemCleft palateMicroretrognathiaHypertelorismRod-cone dystrophyDevelopmental cataractUpslanted palpebral fissureBlue scleraePectus carinatumTapered fingerAtaxiaHypertoniaJoint hypermobilityIntrauterine growth retardationRotary nystagmusAnnular pancreasShort footHypoplastic toenailsRocker bottom footOverlapping toeDownturned corners of mouthKyphoscoliosisHip contractureClinodactyly of the 5th fingerKnee flexion contractureSleep-wake cycle disturbanceBilateral single transverse palmar creasesBilateral conductive hearing impairmentCongenital bilateral hip dislocationAnkyloglossiaEsodeviationSmall hand
Classification & Codes
Orphanet Code
ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorder
| Orphanet | ORPHA:488642 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO