Conditions / Genetic
leukoencephalopathy with vanishing white matter 1
info · Genetic
A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24.
Signs and symptoms
- Macrocephaly
- Lethargy
- Premature ovarian insufficiency
- Seizure
- Cessation of head growth
- Hypotonia
- Cerebral hypomyelination
- Generalized hypotonia
- Primary gonadal insufficiency
- Decreased circulating progesterone