autosomal dominant non-syndromic intellectual disability 31
ORPHA: 438216
Overview
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PURA on chromosome 5q31.3
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 autosomal dominant non-syndromic intellectual disability 31, sourced from HPO and Orphanet clinical annotations.
SeizureGlobal developmental delayRespiratory distressFeeding difficulties in infancyMyopathic faciesSevere global developmental delayHigh palateThin upper lip vermilionMicrocephalyLong faceEpicanthusFull cheeksFacial hypotoniaFacial asymmetryHigh foreheadAbnormal pinna morphologyUnderdeveloped nasal alaeWide nasal bridgeBroad nasal tipAnteverted naresTelecanthusMyopiaUpslanted palpebral fissureLong palpebral fissureShort attention spanAnxietyAtaxiaDystoniaFrontal bossingBroad-based gaitExaggerated startle responseAbnormality of primary teethSevere muscular hypotoniaTented upper lip vermilionIncisor macrodontiaProminent foreheadHandgrip myotoniaDyskinesia
Classification & Codes
Orphanet Code
ORPHA:438216autosomal dominant non-syndromic intellectual disability 31
| Orphanet | ORPHA:438216 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO