syndromic X-linked intellectual disability 94
MeSH: C567479ORPHA: 364028
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 syndromic X-linked intellectual disability 94, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentGlobal developmental delayAtypical behaviorSeizureSpecific learning disabilitySlender buildModerate intellectual disabilityCryptorchidismMicropenisHydronephrosisShort upper lipNarrow palateOpen mouthBrachycephalyMacrocephalyMalar flatteningFacial hypotoniaMandibular prognathiaShort philtrumProminent supraorbital ridgesMacrotiaDeeply set eyePtosisMacrodontia of permanent maxillary central incisorAggressive behaviorAutistic behaviorSelf-mutilationReduced eye contactMild intellectual disabilitySpasticityHyporeflexiaMotor delayCerebellar vermis hypoplasiaMyoclonusJoint hypermobilityPes planusBilateral tonic-clonic seizureHypoplasia of the corpus callosumStatus epilepticusSleep disturbanceDistal muscle weaknessScoliosisRecurrent infectionsKyphosisGenu recurvatumBabinski signShort statureSevere expressive language delayRetrocerebellar cystSleep-wake cycle disturbancePain insensitivityEversion of lateral third of lower eyelidsAxial hypotoniaUplifted earlobeSevere intellectual disabilityThick vermilion borderAbnormality of muscle size
Classification & Codes
MeSH Code
C567479Orphanet Code
ORPHA:364028syndromic X-linked intellectual disability 94
| MeSH | C567479 |
| Orphanet | ORPHA:364028 |
| Treatments | 0 drug(s) |
| Symptoms on record | 57 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO