Conditions / Genetic
autosomal recessive intellectual developmental disorder 45
info · Genetic
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24.
Signs and symptoms
- Wide nasal bridge
- Coarse facial features
- Thick vermilion border
- Intellectual disability
- Synophrys
- Prominent supraorbital ridges
- Deeply set eye
- Hypertelorism
- Bulbous nose
- Retrognathia