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Human Disease

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
Ontology
Human Disease   ( DOID:0112018 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models