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

C563095

Orphanet Code

ORPHA:3079
intellectual disability, Buenos-Aires type
MeSHC563095
OrphanetORPHA:3079
Treatments0 drug(s)
Symptoms on record30 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO