severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
ORPHA: 488627
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 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Coarse facial featuresSeizureGlobal developmental delayFailure to thrive in infancyProteinuriaProgressive microcephalyGait disturbanceCerebral cortical atrophyProfound intellectual disabilityPoor speechMultifocal cerebral white matter abnormalitiesBilateral tonic-clonic seizure with focal onsetDecreased glomerular filtration rateChronic kidney diseaseNephrotic syndromeSensorineural hearing impairmentStrabismusVisual impairmentBlue scleraeNystagmusPsychosisAggressive behaviorCyanosisDysarthriaGeneralized hypotoniaAbsent speechHyperreflexiaTubulointerstitial nephritisDysphagiaHypoplasia of the corpus callosumVentriculomegalyGait imbalancePseudobulbar affectVisual hallucinationGenu valgumLateral ventricle dilatationDysplastic corpus callosumMultifocal hyperintensity of cerebral white matter on MRIArachnoid cystBlue nevus
Classification & Codes
Orphanet Code
ORPHA:488627severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
| Orphanet | ORPHA:488627 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO