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"protein_coding", "start": 126354677, "end": 126442293, "strand": "+", "slug": "st3gal4" }, { "symbol": "KIRREL3", "ensemblId": "ENSG00000149571", "biotype": "protein_coding", "start": 126423358, "end": 127003460, "strand": "-", "slug": "kirrel3" } ], "truncated": false }, "reports": [ { "slug": "intellectual-disability", "name": "Intellektuel funktionsnedsættelse", "diseases": [ { "mondoId": "MONDO:0001071", "name": "intellektuel funktionsnedsættelse", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/da/conditions/intellectual-disability" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "chronic-constipation", "name": "Chronic constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-constipation" }, { "slug": "deeply-set-eye", "name": "Deeply set eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/deeply-set-eye" }, { "slug": "delayed-ability-to-sit", "name": "Delayed ability to sit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-sit" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "flat-face", "name": "Flat face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/flat-face" }, { "slug": "sandal-gap", "name": "Gap between 1st and 2nd toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sandal-gap" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "hypopigmentation-of-the-skin", "name": "Patchy lightened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "short-nose", "name": "Short nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-nose" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" } ], "related": [ { "slug": "acsl4", "symbol": "ACSL4", "name": "acyl-CoA synthetase long chain family member 4", "shared": 1, "url": "https://dantelabs.com/da/genes/acsl4" }, { "slug": "adk", "symbol": "ADK", "name": "adenosine kinase", "shared": 1, "url": "https://dantelabs.com/da/genes/adk" }, { "slug": "adnp", "symbol": "ADNP", "name": "activity dependent neuroprotector homeobox", "shared": 1, "url": "https://dantelabs.com/da/genes/adnp" }, { "slug": "aff2", "symbol": "AFF2", "name": "ALF transcription elongation factor 2", "shared": 1, "url": "https://dantelabs.com/da/genes/aff2" }, { "slug": "ahdc1", "symbol": "AHDC1", "name": "AT-hook DNA binding motif containing 1", "shared": 1, "url": "https://dantelabs.com/da/genes/ahdc1" }, { "slug": "alkbh8", "symbol": "ALKBH8", "name": "alkB homolog 8, tRNA methyltransferase", "shared": 1, "url": "https://dantelabs.com/da/genes/alkbh8" }, { "slug": "ank3", "symbol": "ANK3", "name": "ankyrin 3", "shared": 1, "url": "https://dantelabs.com/da/genes/ank3" }, { "slug": "ankrd11", "symbol": "ANKRD11", "name": "ankyrin repeat domain 11", "shared": 1, "url": "https://dantelabs.com/da/genes/ankrd11" }, { "slug": "ap1s2", "symbol": "AP1S2", "name": "adaptor related protein complex 1 subunit sigma 2", "shared": 1, "url": "https://dantelabs.com/da/genes/ap1s2" }, { "slug": "ap2m1", "symbol": "AP2M1", "name": "adaptor related protein complex 2 subunit mu 1", "shared": 1, "url": "https://dantelabs.com/da/genes/ap2m1" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/da/genes/arhgef9" }, { "slug": "arid1a", "symbol": "ARID1A", "name": "AT-rich interaction domain 1A", "shared": 1, "url": "https://dantelabs.com/da/genes/arid1a" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }