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X-linked intellectual disability-short stature-overweight syndrome
Summary
- Synonym
-
- 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.
- Super Class
- X-linked recessive disease syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0112056
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
