Conditions / Syndrome
encephalopathy due to defective mitochondrial and peroxisomal fission 2
info · Syndrome
A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome
A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36.
Signs and symptoms
- Hypsarrhythmia
- Hypotonia
- Motor delay
- Muscle weakness
- Hyperreflexia
- Dysphagia
- Developmental regression
- Secondary microcephaly
- Spasticity
- Seizure