Conditions / Syndrome
Joubert syndrome 15
info · Syndrome
A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32.
Signs and symptoms
- Global developmental delay
- Hypotonia
- Molar tooth sign on MRI
- Oculomotor apraxia
- Micropenis
- Ataxia
- Generalized hypotonia
- Intellectual disability
- Exencephaly
- Preaxial polydactyly
Also known as: JBTS15