Conditions / Syndrome
Meckel syndrome 13
info · Syndrome
A Meckel syndrome that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality and that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromoso
A Meckel syndrome that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality and that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
Signs and symptoms
- Cerebellar hypoplasia
- Flexion contracture
- Global developmental delay
- Occipital encephalocele
- Ataxia
- Oculomotor apraxia
- Molar tooth sign on MRI
- Retinopathy
- Polycystic kidney dysplasia
- Intellectual disability