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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Adult-onset autosomal recessive cerebellar ataxia 
Ataxia - hypogonadism - choroidal dystrophy 
Ataxia - tapetoretinal degeneration 
Ataxia with vitamin E deficiency 
Ataxia-oculomotor apraxia type 4 
Autosomal dominant cerebellar ataxia type 1 +  
Autosomal dominant cerebellar ataxia type 2 
Autosomal dominant cerebellar ataxia type 3 +  
Autosomal dominant cerebellar ataxia type 4 +  
Autosomal recessive cerebellar ataxia - blindness - deafness 
Autosomal recessive cerebellar ataxia - psychomotor retardation 
Autosomal recessive cerebellar ataxia - saccadic intrusion 
Autosomal recessive cerebellar ataxia due to a DNA repair defect +  
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome +  
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome +  
Autosomal recessive cerebelloparenchymal disorder type 3 
Autosomal recessive spastic ataxia - optic atrophy - dysarthria 
Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
Autosomal recessive spastic ataxia with leukoencephalopathy 
Blindness-scoliosis-arachnodactyly syndrome 
brittle cornea syndrome 
Cataract - ataxia - deafness 
Central cloudy dystrophy of Francois 
Cerebellar ataxia - hypogonadism 
Cerebellar ataxia, Cayman type 
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 
Congenital cataracts - facial dysmorphism - neuropathy 
Connective tissue disease with eye involvement +   
cornea neoplasm +  
cornea plana +  
Corneal astigmatism  
corneal degeneration +   
corneal deposit +  
corneal dystrophy +   
Corneal dystrophy - perceptive deafness 
corneal edema +   
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis 
Dysequilibrium syndrome 
Early-onset spastic ataxia-neuropathy syndrome 
Ectodermal malformation syndrome associated with ocular features +  
Episodic ataxia with slurred speech 
Familial amyloidosis, Finnish type 
Familial paroxysmal ataxia 
Fuchs endothelial corneal dystrophy  
Genetic developmental defect of the eye +  
Genetic lens and zonula anomaly +  
Genetic neuro-ophthalmological disease +  
Genetic vitreous-retinal disease +  
Genodermatosis with ocular features +  
Ichthyosis - hepatosplenomegaly - cerebellar degeneration 
keratitis +   
keratoconus +   
Marinesco-Sjögren syndrome 
megalocornea +  
Metabolic disease associated with ocular features +  
Microcystic corneal dystrophy 
Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus 
Myoclonus - cerebellar ataxia - deafness 
Optic neuropathy +  
Peters anomaly +  
Posterior column ataxia - retinitis pigmentosa 
Rare disease with glaucoma as a major feature +  
Rare genetic palpebral, lacrimal system and conjunctival disease +  
Rare genetic refraction anomaly +  
Refsum disease 
Reis-Bücklers corneal dystrophy 
sclerocornea +  
Spastic ataxia - corneal dystrophy 
Spastic ataxia with congenital miosis 
Spectrin-associated autosomal recessive cerebellar ataxia 
Spinocerebellar ataxia - dysmorphism 
spinocerebellar ataxia, autosomal recessive, 27 
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 
Subaortic stenosis - short stature 
X-linked corneal dermoid 
X-linked reticulate pigmentary disorder with systemic manifestations 

Synonyms
Exact Synonyms: Bedouin spastic ataxia syndrome ;   Mousa-Al Din-Al Nassar syndrome ;   Spastic ataxia - ocular anomalies
Xrefs: ICD10:G11.8 ;   MIM:271320 ;   UMLS:C1849085

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