| Primary disease name | Disease OMIM/MIM | Causal gene | Gene OMIM/MIM | Genomic locus reported | Common synonyms / alternative names | Key defining features | Best supporting citations |
|---|---:|---|---:|---|---|---|---|
| ARX-related lissencephaly and interneuronopathy | 300215 | ARX | 300382 | Xp22.13; Xp21.3 reported in recent review/case literature | X-linked lissencephaly with abnormal genitalia (XLAG); X-linked lissencephaly with ambiguous genitalia; X-linked lissencephaly with agenesis of the corpus callosum and abnormal/ambiguous genitalia; lissencephaly X-linked 2 | Lissencephaly/pachygyria, agenesis of the corpus callosum (ACC), ambiguous/abnormal male genitalia, neonatal-onset refractory/intractable seizures/epilepsy | (pqac-00000001, pqac-00000006, pqac-00000024, pqac-00000028) |
| XLAG | 300215 | ARX | 300382 | Xp22.13 | X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly with ambiguous genitalia | Posterior-predominant lissencephaly or diffuse pachygyria with relatively thick cortex, ACC/callosal agenesis, micropenis/cryptorchidism or genital ambiguity, severe neonatal epileptic encephalopathy | (pqac-00000000, pqac-00000003, pqac-00000013, pqac-00000039) |
| ARX-related lissencephaly | 300215 | ARX | 300382 | X chromosome, Xp21.3/Xp22.13 as cited | ARX-related XLAG; ARX-associated lissencephaly; lissencephaly X-linked 2 | Three-layered cortex with interneuron deficit, small basal ganglia, corpus callosum agenesis, neonatal refractory seizures, severe developmental impairment | (pqac-00000005, pqac-00000007, pqac-00000020, pqac-00000038) |


*Table: This table summarizes the core disease identifiers, synonyms, loci, and defining features for ARX-related lissencephaly/interneuronopathy (XLAG). It is useful as a compact normalization reference for disease knowledge base entries and ontology mapping.*