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| Ataxia v2.123 | CYP7B1 |
Sangavi Sivagnanasundram gene: CYP7B1 was added gene: CYP7B1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to 40782215; 29126212 Phenotypes for gene: CYP7B1 were set to hereditary spastic paraplegia 5A, MONDO:0010047 Review for gene: CYP7B1 was set to GREEN Added comment: PMID 29126212 and 40782215 report multiple individuals with autosomal recessive hereditary spastic paraplegia type 5 (SPG5) characterised by progressive spastic gait and gait ataxia. Sources: Literature |
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