Conditions / Syndrome
encephalopathy due to defective mitochondrial and peroxisomal fission 1
info · Syndrome
A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and with symptoms of hypotonia that may lead to death in childhood.
Signs and symptoms
- Delayed CNS myelination
- Hypotonia
- Motor delay
- Self-biting
- Broad hallux
- Pain insensitivity
- Restlessness
- Hyperalaninemia
- Axial hypotonia
- Microcephaly