Terminology Service for NFDI4Health

ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0014419


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

Label

ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Synonyms
  • Poretti-Boltshauser syndrome
  • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
database cross reference
Subsets

ordo_disease

exactMatch

http://purl.obolibrary.org/obo/Orphanet_370022, http://linkedlifedata.com/resource/umls/id/C4014821, https://omim.org/entry/615960

has related synonym

PTBHS, PORETTI-Boltshauser syndrome

id

MONDO:0014419

narrowMatch

https://icd.codes/icd10cm/G11.1