FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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General Information
Term X-linked intellectual disability-short stature-overweight syndrome ID (Ontology) DOID:0112056 (Human Disease)
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.
Also Known As "Kumar type of X-linked syndromic intellectual developmental disorder" ; "MRX12" ; "MRX35" (for all, see Synonyms field below)
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 Genes
 X-linked intellectual disability-short stature-overweight syndrome       1
 for disease ribbon | X-linked intellectual disability-short stature-overweight syndrome       1
 model of | X-linked intellectual disability-short stature-overweight syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__syndromic X-linked intellectual disability__
 |__X-linked recessive disease__________________|
syndromic intellectual disability               |
 |__syndromic X-linked intellectual disability__|
                                                X-linked intellectual disability-short stature-overweight syndrome  1 rec.
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Is a syndromic X-linked intellectual disability
X-linked recessive disease
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Synonyms
  • "Kumar type of X-linked syndromic intellectual developmental disorder" EXACT
    "MRX12" EXACT OMO:0003012
    "MRX35" EXACT OMO:0003012
    "X-linked mental retardation 12" EXACT
    "X-linked mental retardation 35" EXACT
Secondary IDs
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MIM:300957
ORDO:457240