X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
ORPHA: 459070
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 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, sourced from HPO and Orphanet clinical annotations.
SeizureAbnormal facial shapeSevere intellectual disabilityCryptorchidismMicrocephalyMandibular prognathiaMacrotiaAutismDelayed speech and language developmentAtaxiaCerebellar hypoplasiaAbsent speechGrowth delayGastroesophageal refluxScoliosisSpondyloepiphyseal dysplasiaFloppy infantAnteverted earsInguinal herniaHypospadiasNarrow mouthThin upper lip vermilionEverted lower lip vermilionDolichocephalyLong faceEpicanthusMicroretrognathiaSmooth philtrumBroad foreheadLong philtrumLow-set earsSensorineural hearing impairmentProtruding earRod-cone dystrophyMyopiaExotropiaDelayed pubertyOsteoporosisSingle transverse palmar creaseSacral dimpleHirsutismTapered fingerPolyhydramniosLaryngomalaciaVentricular septal defectAtrial septal defectToe syndactylyBilateral tonic-clonic seizureFebrile seizure (within the age range of 3 months to 6 years)Inability to walkRecurrent infectionsClinodactyly of the 5th fingerPulmonary artery stenosisLower-limb joint contractureDilatation of the ventricular cavityFocal-onset seizureDecreased testicular sizeShort fingerGeneralized tonic seizureLipomaWide nasal ridgeIncreased theta frequency activity in EEGNarrow palpebral fissure
Classification & Codes
Orphanet Code
ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
| Orphanet | ORPHA:459070 |
| Treatments | 0 drug(s) |
| Symptoms on record | 63 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO