Orphanet: X linked lissencephaly with abnormal genitalia

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X-linked lissencephaly with abnormal genitalia

Disease definition

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.


Classification level: Disorder
  • 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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