OrphanDrug
OrphanDrug
Pharma Knowledge Base

Kelley–Seegmiller syndrome

ORPHA: 79233

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

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 Kelley–Seegmiller syndrome, sourced from HPO and Orphanet clinical annotations.

NephropathyIntellectual disabilityDystoniaHyperuricemiaHyperuricosuriaRenal insufficiencyAbnormality of the nervous systemUric acid nephrolithiasisSeizureGlobal developmental delayHyperreflexiaAcute kidney injuryGoutAbnormality of extrapyramidal motor functionElevated circulating creatinine concentrationMacroscopic hematuriaDysuria

Classification & Codes

Orphanet Code

ORPHA:79233
Kelley–Seegmiller syndrome
OrphanetORPHA:79233
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO