microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
ORPHA: 457351
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 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalySensorineural hearing impairmentVisual impairmentGlobal developmental delayEEG abnormalityAutistic behaviorReduced eye contactSeizureSpasticityAbsent speechBilateral tonic-clonic seizureGeneralized non-motor (absence) seizureGeneralized myoclonic seizureModerate intellectual disabilityInability to walkCerebral hypomyelinationSevere expressive language delayFloppy infantSevere intellectual disabilitySevere receptive language delayAbnormal brain morphologyCerebral visual impairmentRetrognathiaUnderdeveloped nasal alaeNeonatal hypotoniaThrombocytopeniaConstipationHypoplasia of the corpus callosumCerebral cortical atrophyGlobal brain atrophyLimb hypertoniaHypsarrhythmiaHighly arched eyebrowImmunodeficiencyLong noseDepressed nasal bridgeHigh nonceruloplasmin-bound serum copperBroad eyebrowEEG with frontal sharp slow wavesPrimary microcephalyBrain atrophyInfantile spasmsMotor stereotypyAtrial septal defectLimb dystoniaScoliosisSacral hypertrichosisGastrostomy tube feeding in infancyExodeviationSelf-injurious behavior
Classification & Codes
Orphanet Code
ORPHA:457351microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
| Orphanet | ORPHA:457351 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO