Term Name: | X-linked lissencephaly 2 |
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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. |
Ontology: | Human Disease [DOID:0112238] ( DOID:0112238 ) |