non-syndromic X-linked intellectual disability 104

Term ID

DOID:0112018

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. https://pubmed.ncbi.nlm.nih.gov/25644381/

References

• OMIM:300983

Ontology

Human Disease   ( DOID:0112018 )