| Metadata | |
|---|---|
| ID | DOID:0112238 |
| Name | X-linked lissencephaly 2 |
| 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. https://pubmed.ncbi.nlm.nih.gov/11891829/, https://pubmed.ncbi.nlm.nih.gov/12379852/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
X-linked lissencephaly with abnormal genitalia [EXACT] X-linked lissencephaly with ambiguous genitalia [EXACT] X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome [EXACT] XLAG (X-linked lissencephaly with abnormal genitalia) syndrome [EXACT] XLAG [EXACT] XLIS2 [EXACT] |
| Parent Relationships |
is_a X-linked monogenic disease is_a lissencephaly |