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Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities. Multi\u2010omics analysis including genomics, transcriptomics, and proteomics, together with muscle biopsy from the affected individual, were used in this clinical case. Through trio exome sequencing we identified two heterozygous variants in the\n                    <jats:italic>TECPR2<\/jats:italic>\n                    gene, NM_014844.4: c.480G&gt;A; p.(Gln160=) and c.2846C&gt;A; p.(Ala949Glu). Both were classified as variants of uncertain significance due to the lack of supporting evidence for pathogenicity. Subsequent long\u2010read sequencing phased the variants and confirmed they were\n                    <jats:italic>in trans<\/jats:italic>\n                    . 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This case study demonstrated the value of a multi\u2010omics assisted analysis, which complemented the traditional phenotype\u2010first approach in reaching a definitive clinical diagnosis.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70191","type":"journal-article","created":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T08:45:42Z","timestamp":1778489142000},"page":"2338-2344","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unraveling a Diagnostic Enigma: A\n                    <i>TECPR2<\/i>\n                    Case Solved Through Multi\u2010Omic Genomics"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3445-3898","authenticated-orcid":false,"given":"Teresa","family":"Zhao","sequence":"first","affiliation":[{"name":"Murdoch Children's Research Institute, Royal Children's Hospital  Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Melbourne Victoria Australia"},{"name":"Victorian Clinical Genetics Services Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6744-1810","authenticated-orcid":false,"given":"Andrew P.","family":"Fennell","sequence":"additional","affiliation":[{"name":"Monash Genetics Monash Health  Clayton Victoria Australia"},{"name":"Department of Medicine School of Clinical Sciences at Monash Health, Monash University  Clayton Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6054-315X","authenticated-orcid":false,"given":"Tanavi","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Biochemistry &amp; 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