Conditions / Genetic
hypomyelinating leukodystrophy 20
info · Genetic
A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome
A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2.
Signs and symptoms
- Progressive microcephaly
- Hypertonia
- Torticollis
- Spastic tetraplegia
- Scoliosis
- Babinski sign
- Developmental regression
- Dystonia
- Hypoplasia of the corpus callosum
- Feeding difficulties
Also known as: HLD20