X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
MeSH: C537456ORPHA: 137831
Overview
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities
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 mental retardation with cerebellar hypoplasia and distinctive facial appearance, sourced from HPO and Orphanet clinical annotations.
Reduced social responsivenessIntellectual disabilityGlobal developmental delayCerebellar hypoplasiaStrabismusDeeply set eyeAutistic behaviorReduced eye contactAtaxiaHypotoniaGeneralized hypotoniaAbnormal facial shapeVentriculomegalyGeneralized myoclonic seizureAbnormal speech patternModerate intellectual disabilityFocal impaired awareness seizurePoor speechPartial absence of cerebellar vermisSevere intellectual disabilityTall chinMandibular prognathiaWide nasal bridgeProminent noseIntention tremorPostural instabilityEnlarged cisterna magnaCaudate atrophyAplasia/Hypoplasia of the cerebellar vermisFrontal cortical atrophyRetrocerebellar cystAttention deficit hyperactivity disorderTemporal cortical atrophy
Classification & Codes
MeSH Code
C537456Orphanet Code
ORPHA:137831X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
| MeSH | C537456 |
| Orphanet | ORPHA:137831 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO