Term Name: hypomyelinating leukodystrophy 7
Synonyms: ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy, dentoleukoencephalopathy, HLD7, hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome, leukodystrophy with oligodontia, leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome, TACH syndrome, tremor-ataxia-central hypomyelination syndrome
Definition: 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.
Ontology: Human Disease [DOID:0060794]   ( DOID:0060794 )

Relationships
is a type of: autosomal recessive disease hypomyelinating leukodystrophy