X-Linked Lissencephaly 2
Disease ID: disease_node_19265
Connections displayed (default: 10).
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| Dbxref | MIM:300215, ORDO:452 |
|---|---|
| Subclassof | DOID_0050453, DOID_0050735 |
| Data Source | DOID |
| 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 |
| Doid Label | X-linked lissencephaly 2 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000936 |
| Disease Node Id | disease_node_19265 |
| Doid Id | DOID_0112238 |
| Label | X-Linked Lissencephaly 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Lissencephaly(ID:disease_node_11852) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Monogenic Disease(ID:disease_node_13360) (Disease)