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deafness dystonia syndrome

Disease Summary
Associated Targets (2)
Tbio

1

Tdark

1


GARD Rare
Mondo Description Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.
Uniprot Description An X-linked recessive disorder characterized by postlingual sensorineural deafness with onset in early childhood, dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness.
Disease Ontology Description A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.
Mondo Term and Equivalent IDs
MONDO:0010578:  deafness dystonia syndrome
GARD:0008331: 
MESH:C535808: 
Orphanet:52368: 
SCTID:702423009: 
UMLS:C0796074: