loading...| Preferred Name |
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| Synonyms |
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome Poretti-Boltshauser syndrome PTBHS PORETTI-Boltshauser syndrome |
| Definitions |
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0014419 |
| database_cross_reference |
Orphanet:370022 UMLS:C4014821 OMIM:615960 |
| definition |
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. |
| disease has major feature | |
| exactMatch | |
| has_exact_synonym |
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome Poretti-Boltshauser syndrome |
| has_related_synonym |
PTBHS PORETTI-Boltshauser syndrome |
| IAO_0000233 | |
| id |
MONDO:0014419 |
| in_subset | |
| label |
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| notation |
MONDO:0014419 |
| prefLabel |
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome |
| treeView | |
| excluded subClassOf | |
| subClassOf |