Conditions / Genetic
Wilson-Turner syndrome
info · Genetic
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 Xq1
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.
Signs and symptoms
- Thick eyebrow
- Intellectual disability
- Obesity
- Gynecomastia
- Delayed speech and language development
- Global developmental delay
- Emotional lability
- Cryptorchidism
- Stuttering
- Tapered finger
Also known as: MRXS6; WTS; X-linked intellectual disability-gynecomastia-obesity syndrome; mental retardation, X-linked, syndromic 6; mental retardation, X-linked, with gynecomastia and obesity