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Hereditary Neuropathy - complex v0.0 | ABHD12 |
Bryony Thompson gene: ABHD12 was added gene: ABHD12 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD12 were set to Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; HMSN |