Wilson-Turner syndrome

Term ID

DOID:0060814

Synonyms

• mental retardation, X-linked, syndromic 6
• mental retardation, X-linked, with gynecomastia and obesity
• MRXS6
• WTS
• X-linked intellectual disability-gynecomastia-obesity syndrome

Definition

A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. (2)

References

• GARD:5579
• MIM:309585
• ORDO:3459

Ontology

Human Disease   ( DOID:0060814 )