syndromic X-linked intellectual disability Cabezas type
ORPHA: 85293
Overview
Human disease
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 Cabezas type, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityInguinal herniaWide mouthShort philtrumAbnormal earlobe morphologyProminent noseShort neckDownslanted palpebral fissuresSynophrysHyperactivityAbsent speechAbnormal speech patternModerate intellectual disabilityClinodactyly of the 5th fingerShort palmHypoplasia of penisAbnormal hair patternOpen biteSevere intellectual disabilityDown-sloping shouldersSmall handThick lower lip vermilionHigh palateMacrocephalyBlepharophimosisAggressive behaviorTremorObesityPes cavusShort footSandal gapBroad-based gaitScoliosisShort statureCachexiaDecreased testicular sizeHypogonadismMicrocephalyEpicanthusAcanthosis nigricansHyperhidrosisSeizureToe syndactylyEEG abnormalityImmunodeficiencyKyphosisCubitus valgusBiparietal narrowingCamptodactyly of finger
Classification & Codes
Orphanet Code
ORPHA:85293syndromic X-linked intellectual disability Cabezas type
| Orphanet | ORPHA:85293 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO