DISEASES

Disease-gene associations mined from literature

Human genes for X-linked lissencephaly 2

X-linked lissencephaly 2 [DOID:0112238]

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.

Synonyms:  X-linked lissencephaly 2,  DOID:0112238,  Xlinked lissencephaly 2,  XLAG,  XLAG (X-linked lissencephaly with abnormal genitalia) syndrome ...