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Meckel syndrome, type 10

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene.
Uniprot Description A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS34 inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0013609:  Meckel syndrome, type 10
UMLS:C3280036: 
UMLS:CN620433: