X-linked intellectual disability-short stature-overweight syndrome
ORPHA: 457240
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 X-linked intellectual disability-short stature-overweight syndrome, sourced from HPO and Orphanet clinical annotations.
High palateAtypical behaviorDelayed speech and language developmentHypotoniaMild intellectual disabilityTremorModerate intellectual disabilityShort statureOverweightMicropenisMicrocephalyHypertelorismBroad foreheadHigh foreheadMacrotiaStrabismusNystagmusDepressionAutistic behaviorMotor stereotypyAnxietySelf-mutilationDecreased response to growth hormone stimulation testSingle transverse palmar creaseSeizureGait disturbanceHip dysplasiaMyocardial infarctionBilateral tonic-clonic seizureGliosisPulmonary fibrosisHyperkinetic movementsCranial hyperostosisUpper limb spasticityCerebellar dysplasiaDecreased testicular sizeSevere intellectual disability
Classification & Codes
Orphanet Code
ORPHA:457240X-linked intellectual disability-short stature-overweight syndrome
| Orphanet | ORPHA:457240 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO