hypomyelinating leukodystrophy 7

Term ID

DOID:0060794

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. (2)

References

• ICD10CM:G11.1
• MIM:607694
• ORDO:137639
• ORDO:447893
• ORDO:447896
• ORDO:77295

Ontology

Human Disease   ( DOID:0060794 )