syndromic X-linked intellectual disability 12
MeSH: C564106ORPHA: 85290
Overview
syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has material basis in variation in the chromosome region Xp11
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 syndromic X-linked intellectual disability 12, sourced from HPO and Orphanet clinical annotations.
Wide mouthBrachycephalyMandibular prognathiaSquare faceSeizureGrowth delayMutismRecurrent infectionsAbnormal position of hair whorlSevere intellectual disabilityThick vermilion borderInguinal herniaHydrocele testisMicrocephalyLateral ventricle dilatationDelayed myelination
Classification & Codes
MeSH Code
C564106Orphanet Code
ORPHA:85290syndromic X-linked intellectual disability 12
| MeSH | C564106 |
| Orphanet | ORPHA:85290 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO