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Human Disease

non-syndromic X-linked intellectual disability 93

Term ID
DOID:0112045
Synonyms
  • MRX93
  • X-linked mental retardation 93
  • X-linked mental retardation with macrocephaly
Definition
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. https://pubmed.ncbi.nlm.nih.gov/17668385/
References
Ontology
Human Disease   ( DOID:0112045 )
Relationships
is a type of
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Genes Involved
Zebrafish Models