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Human Disease

X-linked intellectual disability-short stature-overweight syndrome

Term ID
DOID:0112056
Synonyms
  • MRX12
  • MRX35
  • X-linked mental retardation 12
  • X-linked mental retardation 35
Definition
A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. https://pubmed.ncbi.nlm.nih.gov/26166480/
References
Ontology
Human Disease   ( DOID:0112056 )
Relationships
is a type of
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Genes Involved
Zebrafish Models