Hypomyelinating Leukodystrophy 11 (HLD11)
Inheritance from both parents will result in the disease
Age range at onset:
Typically early childhood
Specialists you may see:
Symptoms of this condition are delayed development of mental and motor skills, tremor, ataxia, spasticity and walking difficulties. Near-sightedness is common, and becomes increasingly severe over time.
Those affected may have hypodontia or teeth in abnormal positions and of abnormal shape.
In some cases, affected individuals are short in stature and experience delayed or absent puberty.
Although this condition is caused by mutations in the POLR1C gene, there are clinical and molecular similarities between POLR1C related leukodystrophy and 4H Syndrome.