chromosome 6q24-q25 deletion syndrome
ORPHA: 251056
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 chromosome 6q24-q25 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalySensorineural hearing impairmentMild intellectual disabilityGlobal developmental delayHigh palateMalar flatteningEpicanthusHypertelorismPosteriorly rotated earsAbnormal pinna morphologyWide nasal bridgeAbnormality of the eyeDownslanted palpebral fissuresAbnormality of visionAgenesis of corpus callosumPlagiocephalyFailure to thriveShort statureAbnormal nervous system morphologyCleft palateLong philtrumMicrognathiaUpslanted palpebral fissureSeizureHypotoniaNeonatal hypotoniaRocker bottom footVentriculomegalyExternal genital hypoplasiaClinodactyly of the 5th fingerAbnormal cardiovascular system morphologyCamptodactyly of finger
Classification & Codes
Orphanet Code
ORPHA:251056chromosome 6q24-q25 deletion syndrome
| Orphanet | ORPHA:251056 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO