CDKL5 deficiency disorder
ICD-10: G40.4ORPHA: 505652
Overview
rare X-linked genetic disorder
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 CDKL5 deficiency disorder, sourced from HPO and Orphanet clinical annotations.
Generalized tonic seizureEverted lower lip vermilionBroad foreheadDeeply set eyeAutistic behaviorDelayed speech and language developmentReduced eye contactIntellectual disabilityHypotoniaGait disturbanceGrowth delayDeep philtrumConstipationGastroesophageal refluxBilateral tonic-clonic seizureDelayed gross motor developmentPoor head controlHypsarrhythmiaBruxismAbnormal muscle toneSleep-wake cycle disturbanceImpaired pain sensationFocal-onset seizureBroad proximal phalanges of the handMultifocal epileptiform dischargesProminent foreheadModerate global developmental delaySevere global developmental delayGastrostomy tube feeding in infancyFeeding difficultiesStereotypical hand wringingInfantile spasmsThick vermilion borderMyoclonic seizureColdnessCerebral visual impairmentTactile hypersensitivityMicrocephalyNarrow foreheadHigh foreheadEsotropiaExotropiaSynophrysParoxysmal bursts of laughterDystoniaHallux valgusChoreaApneaScoliosisRecurrent lower respiratory tract infectionsKyphosisHyperventilation
Classification & Codes
ICD-10 Code
G40.4Orphanet Code
ORPHA:505652CDKL5 deficiency disorder
| ICD-10 | G40.4 |
| Orphanet | ORPHA:505652 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO