X-linked lissencephaly with abnormal genitalia

What is X-linked lissencephaly with abnormal genitalia?

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures.

Other condition names

  • X-linked lissencephaly with ambiguous genitalia
  • X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
  • XLAG (X-linked lissencephaly with abnormal genitalia) syndrome

Inheritance type

X-linked recessive

Prevalence

  • Worldwide: Unknown

Age of Onset

  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.