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Term:
Parent Terms Term With Siblings Child Terms
aceruloplasminemia 
Alpers syndrome 
Ataxia - oculomotor apraxia type 1 
Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy.
Ataxia with vitamin E deficiency 
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome 
Ataxia-telangiectasia 
Atypical progressive supranuclear palsy +  
autosomal dominant optic atrophy +  
autosomal recessive optic atrophy 
cerebrotendinous xanthomatosis 
choroidal sclerosis +  
Chédiak-Higashi syndrome 
Classical progressive supranuclear palsy 
CLN1 disease 
CLN11 disease 
CLN13 disease 
CLN2 disease 
CLN3 disease 
CLN4A disease 
CLN4B disease 
CLN5 disease 
CLN6 disease 
CLN7 disease 
CLN8 disease 
CLN9 disease 
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay 
Congenital neuronal ceroid lipofuscinosis +  
corneal-cerebellar syndrome 
Deafness - encephaloneuropathy - obesity - valvulopathy 
Early-onset spastic ataxia-neuropathy syndrome 
Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease 
eyelid degenerative disorder +  
Fatal infantile lactic acidosis with methylmalonic aciduria 
FLVCR1-related retinopathy with or without ataxia +  
hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency 
infantile cerebellar-retinal degeneration 
Krabbe disease +  
Leber hereditary optic neuropathy 
MELAS 
MERRF 
Microphthalmia - brain atrophy 
microphthalmia-brain atrophy syndrome 
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes +  
Mitochondrial disorder due to a defect in mitochondrial protein synthesis +  
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies 
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 
Mitochondrial oxidative phosphorylation disorder with no known mechanism +  
Mohr-Tranebjaerg syndrome 
multiple mitochondrial dysfunctions syndrome 4 
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 
neuromyelitis optica +   
neuronal ceroid-lipofuscinosis, dominant/recessive 
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 
Pancreatic insufficiency - anemia - hyperostosis 
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain +  
Progressive epilepsy - intellectual disability, Finnish type 
Progressive external ophthalmoplegia - myopathy - emaciation 
Refsum disease 
rhizomelic chondrodysplasia punctata type 1 
RIDDLE syndrome 
Sandhoff disease +  
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis 
Sjogren-Larsson syndrome 
Spastic paraplegia type 2 
spinocerebellar ataxia 27A 
Spinocerebellar ataxia type 1 with axonal neuropathy 
Spinocerebellar ataxia with axonal neuropathy type 2 
SURF1-related Charcot-Marie-Tooth disease type 4 
Tay-Sachs disease +  
tremor-ataxia-central hypomyelination syndrome 
vitreous syneresis +  
X-linked Charcot-Marie-Tooth disease type 5 
Xeroderma pigmentosum complementation group A 
Xeroderma pigmentosum complementation group B 
Xeroderma pigmentosum complementation group D 
Xeroderma pigmentosum complementation group F 
Xeroderma pigmentosum complementation group G 

Synonyms
Exact Synonyms: AOA1
Xrefs: ICD10:G11.3 ;   MIM:208920

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