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Disease Ontology Browser
X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities (DOID:0070698)
Alliance: disease page
Synonyms: NEDXSB
Alt IDs: OMIM:301164
Definition: A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, hypotonia with delayed walking or inability to walk, severe-to-profound intellectual disability with poor or absent speech, and early-onset epilepsy that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11. Females may be less severely affected than males.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/07/2026
MGI 6.24 		The Jackson Laboratory