hypomyelinating leukodystrophy 7

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homoz

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.

Signs and symptoms

• Developmental regression
• Delayed puberty
• Hypodontia
• Abnormality of ocular smooth pursuit
• Loss of ambulation
• Tremor
• Short stature
• Dystonia
• Dysmetria
• Cerebral cortical atrophy

Also known as: HLD7; TACH syndrome; ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; dentoleukoencephalopathy; hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome