syndromic X-linked intellectual disability 34
ORPHA: 466791
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 34, sourced from HPO and Orphanet clinical annotations.
Relative macrocephalyOpen mouthMalar flatteningLong faceProminent nasal bridgeNarrow nasal bridgeProminent noseStrabismusMyopiaUpslanted palpebral fissureDental crowdingAnxietyDelayed speech and language developmentMild intellectual disabilityGeneralized hypotoniaSlender buildHypernasal speechAbnormal left ventricle morphologyPes planusAbnormal facial shapePoor suckDelayed gross motor developmentPoor head controlHigh, narrow palateKyphoscoliosisDysplastic corpus callosumSynostosis involving the 1st metacarpalFeeding difficultiesExcessive shynessCryptorchidismWide mouthThin upper lip vermilionEpicanthusHypertelorismShort philtrumTriangular faceDownslanted palpebral fissuresWidely spaced teethAutismAggressive behaviorDelayed pubertySeizureAtaxiaCerebellar hypoplasiaPlagiocephalyJoint hypermobilityFailure to thriveVentricular septal defectAtrial septal defectPatent ductus arteriosusPatent foramen ovaleRight ventricular hypertrophyLeft ventricular hypertrophyHallux valgusFrontal bossingGastroesophageal refluxHypoplasia of the corpus callosumIntention tremorPoor speechSupernumerary nippleThickened calvariaObstructive sleep apneaClinodactyly of the 5th fingerTalipes valgusTricuspid regurgitationPseudobulbar paralysisHyperactive patellar reflexChiari type I malformationConfetti-like hypopigmented maculesBilateral cryptorchidismEbstein anomaly of the tricuspid valveAnterior pituitary hypoplasiaSpeech apraxiaThick vermilion borderAbnormal cardiac ventricular functionInfantile constant exotropiaNasogastric tube feeding
Classification & Codes
Orphanet Code
ORPHA:466791syndromic X-linked intellectual disability 34
| Orphanet | ORPHA:466791 |
| Treatments | 0 drug(s) |
| Symptoms on record | 77 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO