A rare, autosomal recessive congenital cerebellar ataxia 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.

Synonyms:

Pure Joubert syndrome

Joubert-Boltshauser syndrome

Joubert syndrome type A

Classic Joubert syndrome

Cerebelloparenchymal disorder IV

CPD IV

This is just here as a test because I lose it

Term information

database cross reference
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475
hasDbXref
  • OMIM:618161
  • OMIM:617120
  • OMIM:612291
  • OMIM:616490
  • OMIM:619185
  • OMIM:617761
  • OMIM:616781
  • OMIM:614173
  • OMIM:617121
  • OMIM:616654
  • OMIM:617622
  • OMIM:614970
  • OMIM:614464
  • OMIM:616784
  • ICD-10:Q04.3
  • OMIM:615636
  • OMIM:614424
  • OMIM:213300
  • OMIM:610688
  • OMIM:614615
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409943
has birth prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409977
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409981
  • http://www.orpha.net/ORDO/Orphanet_409976
notation
  • ORPHA:475
part of
  • http://www.orpha.net/ORDO/Orphanet_140874
  • http://www.orpha.net/ORDO/Orphanet_98514
  • http://www.orpha.net/ORDO/Orphanet_102283
  • http://www.orpha.net/ORDO/Orphanet_269560
  • http://www.orpha.net/ORDO/Orphanet_611327
present in
  • http://www.orpha.net/ORDO/Orphanet_409991
  • http://www.orpha.net/ORDO/Orphanet_410100