X-linked intellectual disability, Stevenson type
ORPHA: 85325
Overview
, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.
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 intellectual disability, Stevenson type, sourced from HPO and Orphanet clinical annotations.
Tall statureAbnormal pinna morphologyThickened helicesThick eyebrowMicrodontiaLarge handsTapered fingerHypotoniaGlobal developmental delayAreflexiaObesityLong footAbnormal facial shapeModerate intellectual disabilityGenu valgumAbnormal dermatoglyphicsThick nasal alaeBroad columellaTented upper lip vermilionSevere intellectual disabilityFeeding difficultiesPalpebral edema
Classification & Codes
Orphanet Code
ORPHA:85325X-linked intellectual disability, Stevenson type
| Orphanet | ORPHA:85325 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO