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"abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/long-palpebral-fissure" }, { "slug": "delayed-gross-motor-development", "name": "Delayed motor skills", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-gross-motor-development" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "thick-lower-lip-vermilion", "name": "Full lower lip", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion" }, { "slug": "periorbital-fullness", "name": "Fullness around the eyes", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/periorbital-fullness" }, { "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": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "moderate-intellectual-disability", "name": "IQ between 34 and 49", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/moderate-intellectual-disability" }, { "slug": "macrotia", "name": "Large ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/macrotia" }, { "slug": "schizophrenia", "name": "Schizophrenia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/schizophrenia" }, { "slug": "short-distal-phalanx-of-finger", "name": "Short outermost finger bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-distal-phalanx-of-finger" } ], "related": [ { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 2, "url": "https://dantelabs.com/et/genes/arhgef9" }, { "slug": "clcn4", "symbol": "CLCN4", "name": "Cl-/H+ antiporter 4", "shared": 2, "url": "https://dantelabs.com/et/genes/clcn4" }, { "slug": "cnksr2", "symbol": "CNKSR2", "name": "connector enhancer of kinase suppressor of Ras 2", "shared": 2, "url": "https://dantelabs.com/et/genes/cnksr2" }, { "slug": "frmpd4", "symbol": "FRMPD4", "name": "FERM and PDZ domain containing 4", "shared": 2, "url": "https://dantelabs.com/et/genes/frmpd4" }, { "slug": "gria3", "symbol": "GRIA3", "name": "glutamate ionotropic receptor AMPA type subunit 3", "shared": 2, "url": "https://dantelabs.com/et/genes/gria3" }, { "slug": "hnrnph2", "symbol": "HNRNPH2", "name": "heterogeneous nuclear ribonucleoprotein H2", "shared": 2, "url": "https://dantelabs.com/et/genes/hnrnph2" }, { "slug": "il1rapl1", "symbol": "IL1RAPL1", "name": "interleukin 1 receptor accessory protein like 1", "shared": 2, "url": "https://dantelabs.com/et/genes/il1rapl1" }, { "slug": "iqsec2", "symbol": "IQSEC2", "name": "IQ motif and Sec7 domain ArfGEF 2", "shared": 2, "url": "https://dantelabs.com/et/genes/iqsec2" }, { "slug": "kdm5c", "symbol": "KDM5C", "name": "lysine demethylase 5C", "shared": 2, "url": "https://dantelabs.com/et/genes/kdm5c" }, { "slug": "nexmif", "symbol": "NEXMIF", "name": "neurite extension and migration factor", "shared": 2, "url": "https://dantelabs.com/et/genes/nexmif" }, { "slug": "pak3", "symbol": "PAK3", "name": "p21 (RAC1) activated kinase 3", "shared": 2, "url": "https://dantelabs.com/et/genes/pak3" }, { "slug": "pcdh19", "symbol": "PCDH19", "name": "protocadherin 19", "shared": 2, "url": "https://dantelabs.com/et/genes/pcdh19" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }