Conditions / Syndrome
Fraser syndrome 2
info · Syndrome
A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3.
Signs and symptoms
- Ambiguous genitalia
- Cutaneous syndactyly
- Cryptophthalmos
- Aplasia of the bladder
- Renal hypoplasia
- Abdominal distention
- Oligohydramnios
- Bilateral renal agenesis
- Rectal atresia
- Anal atresia
Also known as: FRASRS2