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| Hereditary Neuropathy v2.4 | MADD |
Sangavi Sivagnanasundram gene: MADD was added gene: MADD was added to Hereditary Neuropathy. Sources: Literature Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MADD were set to 32761064 Phenotypes for gene: MADD were set to hereditary sensory and autonomic neuropathy (HSAN) MONDO:0015364 Review for gene: MADD was set to GREEN Added comment: PMID 32761064 reports multiple individuals with biallelic MADD variants presenting with hereditary sensory and autonomic neuropathy (HSAN) and a multisystem disorder that includes developmental delay, hypotonia and endocrine/exocrine dysfunction. Sources: Literature |
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