Term Name: X-linked neurodevelopmental disorder with poor or absent speech and behavioral abnormalities
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.
Ontology: Human Disease [DOID:0070698]   ( DOID:0070698 )

Relationships
is a type of: syndromic X-linked intellectual disability X-linked dominant disease