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X-linked lissencephaly with abnormal genitalia

Disease definition

X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism.


  • Synonym(s):
    • X-linked lissencephaly with ambiguous genitalia
    • X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
    • XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: Q04.3
  • OMIM: 300215
  • UMLS: C1846171
  • MeSH: -
  • GARD: 12491
  • MedDRA: -

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