WormBase Tree Display for DO_term: DOID:0110993
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DOID:0110993 | Name | Joubert syndrome 24 | |||
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Status | Valid | ||||
Definition | A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. | ||||
Synonym | Exact | JBTS24 | |||
Parent | Is_a | DOID:0050777 | |||
DB_info | Database | OMIM | disease | 616654 |