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Human Disease

X-linked lissencephaly 2

Term ID
DOID:0112238
Synonyms
  • X-linked lissencephaly with abnormal genitalia
  • X-linked lissencephaly with ambiguous genitalia
  • X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
  • XLAG
  • XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
  • XLIS2
Definition
A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3. (2)
References
Ontology
Human Disease   ( DOID:0112238 )
Relationships
is a type of
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Genes Involved
Zebrafish Models