Joubert syndrome 2
Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has material basis in mutation in the TMEM216 gene on chromosome 11q12.2
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Joubert syndrome 2
Summary
Joubert syndrome 2 is a rare disease[1].
Key Facts
- Joubert syndrome 2's instance of is recorded as rare disease[2].
- Joubert syndrome 2's instance of is recorded as class of disease[3].
- Joubert syndrome 2 is a type of Joubert syndrome[4].
- Joubert syndrome 2 is a type of Joubert syndrome with oculorenal defect[5].
- Joubert syndrome 2's genetic association is recorded as TMEM216[6].
- Joubert syndrome 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110988[7].
- Joubert syndrome 2's exact match is recorded as http://identifiers.org/doid/DOID:0110988[8].
- Joubert syndrome 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2318[9].
- Joubert syndrome 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].