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"ensemblId": "ENSG00000159723", "biotype": "protein_coding", "start": 67482571, "end": 67483552, "strand": "-", "slug": "agrp" }, { "symbol": "RIPOR1", "ensemblId": "ENSG00000039523", "biotype": "protein_coding", "start": 67518418, "end": 67546788, "strand": "+", "slug": "ripor1" }, { "symbol": "CTCF", "ensemblId": "ENSG00000102974", "biotype": "protein_coding", "start": 67561831, "end": 67639189, "strand": "+", "slug": "ctcf" } ], "truncated": false }, "reports": [ { "slug": "cleidocranial-dysplasia", "name": "Kallon-solmuluun dysplasia", "diseases": [ { "mondoId": "MONDO:0859307", "name": "Kallon-solmuluun dysplasia 2 (CBFB-geeniin liittyvä)", "genes": 1, "inheritance": "autosomal-dominant", "description": "Harvinaisempi kallon-solmuluun dysplasian muoto, jonka aiheuttavat CBFB-variantit.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/cleidocranial-dysplasia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "aplastic-clavicle", "name": "Absent collarbone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplastic-clavicle" }, { "slug": "plagiocephaly", "name": "Asymmetry of the posterior head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/plagiocephaly" }, { "slug": "broad-thumb", "name": "Broad thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/broad-thumb" }, { "slug": "congenital-pseudoarthrosis-of-the-clavicle", "name": "Congenital pseudoarthrosis of the clavicle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congenital-pseudoarthrosis-of-the-clavicle" }, { "slug": "coxa-valga", "name": "Coxa valga", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/coxa-valga" }, { "slug": "hypoplasia-of-the-maxilla", "name": "Decreased size of maxilla", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla" }, { "slug": "delayed-eruption-of-primary-teeth", "name": "Delayed eruption of baby teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-eruption-of-primary-teeth" }, { "slug": "delayed-pubic-bone-ossification", "name": "Delayed maturation of pubic bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-pubic-bone-ossification" }, { "slug": "delayed-ossification-of-carpal-bones", "name": "Delayed maturation of wrist bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ossification-of-carpal-bones" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "supernumerary-tooth", "name": "Extra teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/supernumerary-tooth" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ 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], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "down-sloping-shoulder", "name": "Rounded shoulders", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/down-sloping-shoulder" }, { "slug": "short-clavicles", "name": "Short collarbone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-clavicles" }, { "slug": "short-distal-phalanx-of-finger", "name": "Short outermost finger bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-distal-phalanx-of-finger" }, { "slug": "wide-anterior-fontanel", "name": "Wider-than-typical soft spot of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wide-anterior-fontanel" } ], "related": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }