X-linked lissencephaly 2

Term ID

DOID:0112238

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

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. (2)

References

• OMIM:300215
• ORDO:452

Ontology

Human Disease   ( DOID:0112238 )