deafness dystonia syndrome
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.
MONDO:0016802
mitochondrial protein import disorder
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0024237
inherited neurodegenerative disorder
is_a
DDON syndrome
exact
DDP
related
Deafness-Dystonia-Optic Neuronopathy Syndrome
exact
MOHR-Tranebjaerg syndrome
related
MTS
related
Mohr-Tranebjaerg syndrome
exact
Mohr-Tranebjaerg syndrome, X-linked recessive
exact
deafness - dystonia - optic neuronopathy syndrome
related
deafness dystonia optic neuronopathy syndrome (DDON)
exact
deafness dystonia syndrome
exact
deafness-dystonia-optic neuronopathy (DDON) syndrome
related
deafness-dystonia-optic neuronopathy syndrome
exact
SPAC13G6.04