X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
ORPHA: 324410
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 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome, sourced from HPO and Orphanet clinical annotations.
Overfolded helixMacrotiaAbnormal thumb morphologySeizureGlobal developmental delayAbsent speechCongestive heart failureCardiomegalyProfound intellectual disabilityContractures of the large jointsAbnormal atrioventricular valve morphologyMacroorchidismEverted lower lip vermilionCoarse facial featuresMandibular prognathiaSmooth philtrumBulbous noseProminent nasal bridgeMitral valve prolapseAortic valve stenosisMitral regurgitationPoor speechSpastic tetraplegiaInability to walkKyphoscoliosisSteppage gaitAtrial flutterTricuspid regurgitationDepressed nasal bridgeProtruding tongue
Classification & Codes
Orphanet Code
ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
| Orphanet | ORPHA:324410 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO