Conditions / Syndrome
hydrolethalus syndrome 2
info · Syndrome
A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1.
Signs and symptoms
- Molar tooth sign on MRI
- Postaxial hand polydactyly
- Preaxial foot polydactyly
- Cleft palate
- Anencephaly
- Agenesis of corpus callosum
- Hydrocephalus
- Ventriculomegaly
- Postaxial foot polydactyly
- Micrognathia
Also known as: HLS2