Conditions / Genetic
Ferguson-Bonni neurodevelopmental syndrome
info · Genetic
A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay that has_material_basis_in homozygous mutation in the ANAPC7 gene on chromosome 12q24.
Signs and symptoms
- Global developmental delay
- Hypotonia
- Pectus excavatum
- Hypertelorism
- Micrognathia
- Motor delay
- Strabismus
- Hearing impairment
- High palate
- Premature ovarian insufficiency