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"obligate", "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": "occasional", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "lumbar-hyperlordosis", "name": "Excessive inward curvature of lower spine", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lumbar-hyperlordosis" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "lower-limb-hyperreflexia", "name": "Overactive lower leg reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia" }, { "slug": "spastic-gait", "name": "Spastic walk", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spastic-gait" } ], "related": [ { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/abcd1" }, { "slug": "abhd16a", "symbol": "ABHD16A", "name": "abhydrolase domain containing 16A, phospholipase", "shared": 1, "url": "https://dantelabs.com/ko/genes/abhd16a" }, { "slug": "aldh18a1", "symbol": "ALDH18A1", "name": "aldehyde dehydrogenase 18 family member A1", "shared": 1, "url": "https://dantelabs.com/ko/genes/aldh18a1" }, { "slug": "amfr", "symbol": "AMFR", "name": "autocrine motility factor receptor", "shared": 1, "url": "https://dantelabs.com/ko/genes/amfr" }, { "slug": "ap4b1", "symbol": "AP4B1", "name": "adaptor related protein complex 4 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/ap4b1" }, { "slug": "ap4e1", "symbol": "AP4E1", "name": "adaptor related protein complex 4 subunit epsilon 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/ap4e1" }, { "slug": "ap4m1", "symbol": "AP4M1", "name": "adaptor related protein complex 4 subunit mu 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/ap4m1" }, { "slug": "ap4s1", "symbol": "AP4S1", "name": "adaptor related protein complex 4 subunit sigma 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/ap4s1" }, { "slug": "ap5z1", "symbol": "AP5Z1", "name": "adaptor related protein complex 5 subunit zeta 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/ap5z1" }, { "slug": "arl6ip1", "symbol": "ARL6IP1", "name": "ARL6 interacting reticulophagy regulator 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/arl6ip1" }, { "slug": "atl1", "symbol": "ATL1", "name": "atlastin GTPase 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/atl1" }, { "slug": "atp13a2", "symbol": "ATP13A2", "name": "ATPase cation transporting 13A2", "shared": 1, "url": "https://dantelabs.com/ko/genes/atp13a2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }