Conditions / Syndrome
Fraser syndrome 1
info · Syndrome
A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21.
Signs and symptoms
- Laryngeal stenosis
- Cryptophthalmos
- Enlarged fetal lungs
- Pulmonary hyperplasia
- Absent eyebrow
- Absent eyelashes
- Corneal opacity
- Renal hypoplasia
- Seizure
- Abnormal middle ear morphology
Also known as: FRASRS1