Kleefstra syndrome due to a point mutation
ORPHA: 261652
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 a point mutation, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityGlobal developmental delayAbnormal facial shapeAbnormality of the genital systemAtypical behaviorOvergrowthAbnormal heart morphologyRecurrent infectionsBrain imaging abnormalityInguinal herniaVesicoureteral refluxAbnormality of the kidneyThick lower lip vermilionMicrocephalyHearing impairmentAutistic behaviorDelayed speech and language developmentSeizureMotor delayCerebellar hypoplasiaFailure to thriveLarge for gestational ageGastroesophageal refluxHypoplasia of the corpus callosumVentriculomegalyDelayed gross motor developmentLanguage impairmentAbnormal cerebral white matter morphologyShort statureSevere expressive language delayUplifted earlobeModerate receptive language delayMidface retrusionAbnormality of the musculoskeletal systemSelf-injurious behaviorAbnormal shape of the palpebral fissureAbnormality of the dentitionBrachycephalyDevelopmental cataractHypermetropiaNatal toothPrecocious pubertyHyperextensible skinTapered fingerHypotoniaPlagiocephalyUmbilical herniaAnal atresiaGliosisTracheomalacia
Classification & Codes
Orphanet Code
ORPHA:261652Kleefstra syndrome due to a point mutation
| Orphanet | ORPHA:261652 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO