X-linked lissencephaly 2

Summary

DOID:0112238 - X-linked lissencephaly 2

Disease Ontology 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.

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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: arx

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): X-linked monogenic disease (is_a), lissencephaly (is_a)