Conditions / Syndrome
Fraser syndrome 3
info · Syndrome
A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3.
Signs and symptoms
- Small scrotum
- Cutaneous syndactyly
- Convex nasal ridge
- Low-set ears
- Micrognathia
- Short toe
- Wide nose
- Bilateral renal agenesis
- Hypoplasia of the bladder
- Cryptophthalmos
Also known as: FRASRS3