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X-linked lissencephaly with abnormal genitalia

MeSH: C564563ORPHA: 452

Contents

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

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 X-linked lissencephaly with abnormal genitalia, sourced from HPO and Orphanet clinical annotations.

CryptorchidismAmbiguous genitaliaMicrocephalyMicrognathiaHypohidrosisIntellectual disabilitySeizureHypotoniaSpasticityGlobal developmental delayAgenesis of corpus callosumPachygyriaVentricular septal defectPatent ductus arteriosusExocrine pancreatic insufficiencyMalabsorptionVentriculomegalyAganglionic megacolonHypoplasia of penisProminent forehead

Classification & Codes

MeSH Code

C564563

Orphanet Code

ORPHA:452
X-linked lissencephaly with abnormal genitalia
MeSHC564563
OrphanetORPHA:452
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO