Conditions / Syndrome
Joubert syndrome 10
info · Syndrome
A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2.
Signs and symptoms
- Decreased body weight
- Short stature
- Dysmetria
- Brachydactyly
- Hypotonia
- Motor delay
- Frequent temper tantrums
- Severe intellectual disability
- Recurrent infections
- Thick vermilion border
Also known as: JBTS10