Conditions / Syndrome
Ohdo syndrome, SBBYS variant
info · Syndrome
A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22.
Signs and symptoms
- Severe intellectual disability
- Feeding difficulties
- Cryptorchidism
- Hypotonia
- Long hallux
- Long thumb
- Blepharophimosis
- Motor delay
- Bulbous nose
- Thin upper lip vermilion
Also known as: Say-Barber-Biesecker-Young-Simpson syndrome; blepharophimosis-intellectual disability syndrome, SBBYS type