Term Name: | non-syndromic X-linked intellectual disability 104 |
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Synonyms: | MRX104, X-linked mental retardation 104 |
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. |
Ontology: | Human Disease [DOID:0112018] ( DOID:0112018 ) |