X-linked lissencephaly 2 (DOID:0112238)
Alliance: disease page
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
Alt IDs: OMIM:300215, ORDO:452
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.