Conditions / Syndrome
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
info · Syndrome
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in FBXO11 gene on chromosome 2p16.
Signs and symptoms
- Strabismus
- Thick vermilion border
- Delayed speech and language development
- Hypotonia
- Intellectual disability
- Global developmental delay
- Broad finger
- Delayed ability to walk
- Posteriorly rotated ears
- Deeply set eye
Also known as: FBXO11-related NDD; FBXO11-related neurodevelopmental disorder; IDDFBA