Severe X-linked intellectual disability, Gustavson type
MeSH: C536759ORPHA: 3078
Overview
medical condition
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 X-linked intellectual disability, Gustavson type, sourced from HPO and Orphanet clinical annotations.
MicrocephalyOptic atrophySeizureHypertoniaSevere postnatal growth retardationProfound hearing impairmentBlindnessSpasticitySmall for gestational ageDilated fourth ventricleRecurrent upper respiratory tract infectionsSmall fontanelleApneic episodes in infancySevere intellectual disabilityBrain atrophyNasogastric tube feedingVesicoureteral refluxLarge fontanellesMicrognathiaAbnormal pinna morphologyMacrotiaTriphalangeal thumbDandy-Walker malformationCerebellar hypoplasiaMyoclonusCongenital hip dislocationVentricular septal defectRocker bottom footCalcaneovalgus deformityShort noseContractures of the large jointsSevere muscular hypotoniaLateral ventricle dilatationEquinovarus deformity
Classification & Codes
MeSH Code
C536759Orphanet Code
ORPHA:3078Severe X-linked intellectual disability, Gustavson type
| MeSH | C536759 |
| Orphanet | ORPHA:3078 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO