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Joubert syndrome 3 (JBTS3)
Pathology:
1) brain congenital malformation involving
a) cerebellar vermis
b) brainstem
2) abnormalities of axonal decussation affecting
a) corticospinal tract
b) superior cerebellar peduncles
Genetics:
1) autosomal recessive
2) defects in AHI1 gene are the cause of Joubert syndrome 3
Clinical manifestations:
1) motor abnormalities
2) behavioral abnormalities
3) inability to walk due to
a) severe clumsiness
b) 'mirror' movements
4) cognitive impairment
5) behavioral disorder
General
Joubert syndrome
Database Correlations
OMIM 608629
References
- OMIM :accession 608629