syndromic X-linked intellectual disability Nascimento type
ORPHA: 163956
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 Nascimento type, sourced from HPO and Orphanet clinical annotations.
Wide mouthDry skinDelayed gross motor developmentPoor speechLow hanging columellaMicropenisVesicoureteral refluxThin vermilion borderMacrocephalyHypertelorismBroad neckUpslanted palpebral fissureSynophrysAggressive behaviorSeizureVentricular septal defectPes cavusShort footLow posterior hairlineGeneralized hirsutismAbnormal cerebral white matter morphologyDownturned corners of mouthNeonatal hyperbilirubinemiaDepressed nasal bridgeWide intermamillary distanceHypointensity of cerebral white matter on MRIEcholaliaSevere intellectual disabilityChronic constipationCryptorchidismHypospadiasHigh foreheadHearing impairmentMacrotiaUnderdeveloped nasal alaeStrabismusDevelopmental cataractCompulsive behaviorsOligohydramniosTetralogy of FallotPatent ductus arteriosusPatent foramen ovaleMitral stenosisDouble outlet right ventricleBilateral talipes equinovarusOverlapping toeDecreased total neutrophil countDeep philtrumPulmonary arterial hypertensionRecurrent respiratory infectionsModerate intellectual disabilityPreauricular pitPeripheral pulmonary artery stenosisAbnormal vena cava morphologyPatchy hypo- and hyperpigmentationNail dystrophyAbnormal hair whorlMidface retrusionLumbar hypertrichosisHypoplasia of the ponsLower extremity joint dislocationClubbing of toesRecurrent cutaneous abscess formationRecurrent ear infections
Classification & Codes
Orphanet Code
ORPHA:163956syndromic X-linked intellectual disability Nascimento type
| Orphanet | ORPHA:163956 |
| Treatments | 0 drug(s) |
| Symptoms on record | 64 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO