Kleefstra syndrome due to 9q34 microdeletion
ORPHA: 96147
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 Kleefstra syndrome due to 9q34 microdeletion, sourced from HPO and Orphanet clinical annotations.
Everted lower lip vermilionBrachycephalyHypertelorismAnteverted naresIntellectual disabilityHypotoniaGlobal developmental delaySpecific learning disabilityMutismAphasiaHighly arched eyebrowShort noseFlat occiputEcholaliaCryptorchidismAbnormal testis morphologyMacroglossiaMicrocephalySynophrysAutismSeizureObesityAbnormal cardiac septum morphologyGeneralized non-motor (absence) seizureStatus epilepticusDownturned corners of mouthProtruding tongueEpileptic spasmMidface retrusionInguinal herniaVesicoureteral refluxRenal insufficiencyHearing impairmentAtypical behaviorDepressionIrritabilityAnxietyApathyAgenesis of corpus callosumAbsent septum pellucidumFailure to thriveGrowth delayTetralogy of FallotAortic valve stenosisAortic regurgitationCoarctation of aortaConotruncal defectVentriculomegalyCerebral cortical atrophySleep disturbanceHypoplasia of penisFeeding difficultiesSubcortical cerebral atrophyCerebral cortical hemiatrophyFemoral hernia
Classification & Codes
Orphanet Code
ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion
| Orphanet | ORPHA:96147 |
| Treatments | 0 drug(s) |
| Symptoms on record | 55 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO