Joubert syndrome
cv_term_accession
KW-0979
canonical
uniprot_keyword
KW-0979
canonical
name
Joubert syndrome
uniprot
synonym
CPD IV
uniprot
synonym
Cerebellar vermis agenesis
uniprot
synonym
Cerebelloparenchymal disorder IV
uniprot
synonym
JBTS
uniprot
synonym
JS
uniprot
synonym
Joubert-Boltshauser syndrome
uniprot
definition
Protein which, if defective, causes Joubert syndrome, an autosomal recessive multisystem disorder characterized by cerebellar ataxia, developmental delay, hypotonia, neonatal breathing abnormalities and oculomotor apraxia. Neuroradiologically, it is characterized by cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of the 'molar tooth sign' on transaxial slices. A wide clinical variability with a marked variation in severity and inconsistent presence of the following features is observed: episodic apnea-hyperpnea, abnormal eye movements, occipital meningoencephalocele, polydactyly, nephronophthisis or cystic dysplasia of the kidney, chorioretinal coloboma and retinal dysplasia. The variable association of ocular and renal abnormalities with cerebellar features typical of Joubert syndrome defines the cerebello- oculo-renal syndromes (CORSs).
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords