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X-linked lissencephaly 2
Summary
- Synonym
-
- 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.
- Super Class
- X-linked monogenic disease lissencephaly
External Links
- Disease Ontology
- DOID:0112238
- Mondo Disease Ontology
- ORDO
- OMIM
