intellectual disability, Buenos-Aires type
MeSH: C563095ORPHA: 3079
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 intellectual disability, Buenos-Aires type, sourced from HPO and Orphanet clinical annotations.
High palateMicrocephalyMandibular prognathiaHypertelorismSloping foreheadMacrotiaWide nasal bridgeDownslanted palpebral fissuresPhotophobiaDental malocclusionPectus carinatumAbnormal fingernail morphologyIntellectual disabilityUmbilical herniaAbnormal cardiac septum morphologySpastic gaitAbnormal speech patternFine hairAbnormal pelvic girdle bone morphologyAbnormal calvaria morphologyClinodactyly of the 5th fingerShort statureReduced bone mineral densityBiparietal narrowingAbnormal dental morphologyHyperconvex thumb nailsCuboid-shaped thoracolumbar vertebral bodiesOpen biteHydronephrosisBlepharophimosis
Classification & Codes
MeSH Code
C563095Orphanet Code
ORPHA:3079intellectual disability, Buenos-Aires type
| MeSH | C563095 |
| Orphanet | ORPHA:3079 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO