ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
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. [ ]
Term info
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
- Poretti-Boltshauser syndrome
- ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
ordo_disease
http://purl.obolibrary.org/obo/Orphanet_370022, http://linkedlifedata.com/resource/umls/id/C4014821, https://omim.org/entry/615960
PTBHS, PORETTI-Boltshauser syndrome
MONDO:0014419
https://icd.codes/icd10cm/G11.1