Meckel syndrome 14

A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TXNDC15 gene on chromosome 5q31.

Signs and symptoms

• Single ventricle
• Anteverted nares
• Occipital encephalocele
• Decreased calvarial ossification
• Abdominal distention
• Polycystic kidney dysplasia
• Retrognathia
• Postaxial hand polydactyly
• Holoprosencephaly
• Short neck

Also known as: MKS14