non-syndromic X-linked intellectual disability 104 (DOID:0112018)
Alliance: disease page
Synonyms: MRX104; X-linked mental retardation 104
Alt IDs: OMIM:300983
Definition: A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2.