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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.

ORPHA:452

  • 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: -

Detailed information

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