X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities

Term ID

DOID:0070698

Synonyms

• NEDXSB

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. (2)

References

• MIM:301164

Ontology

Human Disease   ( DOID:0070698 )