JBTS31
MCID: JBR044
MIFTS: 21
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Joubert Syndrome 31 (JBTS31)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Joubert Syndrome 31:Characteristics:Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Respiratory diseases Nephrological diseases Mental diseases Liver diseases |
UniProtKB/Swiss-Prot
:
75
Joubert syndrome 31: 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. JBTS31 inheritance is autosomal recessive.
MalaCards based summary : Joubert Syndrome 31, is also known as jbts31. An important gene associated with Joubert Syndrome 31 is CEP120 (Centrosomal Protein 120). Affiliated tissues include liver and eye, and related phenotypes are nystagmus and global developmental delay
Description from OMIM:
617761
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617761Human phenotypes related to Joubert Syndrome 31:32 (show all 10)
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MalaCards organs/tissues related to Joubert Syndrome 31:41
Liver,
Eye
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ClinVar genetic disease variations for Joubert Syndrome 31:6
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Search
GEO
for disease gene expression data for Joubert Syndrome 31.
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