Huntington's disease-like 2

Term ID

DOID:0090104

Synonyms

• HDL2
• Huntington disease-like 2

Definition

A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. (2)

References

• ICD10CM:G10
• OMIM:606438
• ORDO:98934

Ontology

Human Disease   ( DOID:0090104 )