FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked lissencephaly 2 ID (Ontology) DOID:0112238 (Human Disease)
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.
Also Known As "X-linked lissencephaly with abnormal genitalia" ; "X-linked lissencephaly with ambiguous genitalia" ; "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" (for all, see Synonyms field below)
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 Genes
 X-linked lissencephaly 2       3
 for disease ribbon | X-linked lissencephaly 2       3
 model of | X-linked lissencephaly 2       3
Spanning Tree (Parents/Children)
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monogenic disease
 |__X-linked monogenic disease_________
congenital nervous system abnormality  |
 |__lissencephaly______________________|
                                       X-linked lissencephaly 2  3 rec.
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Is a lissencephaly
X-linked monogenic disease
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Synonyms
  • "X-linked lissencephaly with abnormal genitalia" EXACT
    "X-linked lissencephaly with ambiguous genitalia" EXACT
    "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" EXACT
    "XLAG" EXACT OMO:0003012
    "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" EXACT
    "XLIS2" EXACT OMO:0003012
Secondary IDs
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MIM:300215
ORDO:452