Conditions / Syndrome
Meckel syndrome 9
info · Syndrome
A Meckel syndrome that has_material_basis_in compound heterozygous mutation in the B9D1 gene on chromosome 17p11.2.
Signs and symptoms
- Limb undergrowth
- Talipes equinovarus
- Ambiguous genitalia
- Occipital encephalocele
- Abnormal posterior cranial fossa morphology
- Multicystic kidney dysplasia
- Sonographic non-visualized fetal bladder