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Joubert syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018772

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. [ ]

Term info

Label

Joubert syndrome

Synonyms
  • CPD IV
  • JBTS
  • Joubert syndrome
  • Joubert syndrome type A
  • Joubert-Boltshauser syndrome
  • cerebelloparenchymal disorder IV
  • classic Joubert syndrome
  • pure Joubert syndrome
database cross reference
Subsets

ordo_disease

exactMatch

http://identifiers.org/snomedct/716997004, https://omim.org/phenotypicSeries/PS213300, http://purl.obolibrary.org/obo/Orphanet_475, http://purl.obolibrary.org/obo/DOID_0050777, http://purl.obolibrary.org/obo/NCIT_C74996

has related synonym

cerebellar vermis agenesis

id

MONDO:0018772

narrowMatch

https://icd.codes/icd10cm/Q04.3