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"microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/microcephaly" }, { "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": "brisk-reflexes", "name": "Brisk reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/brisk-reflexes" }, { "slug": "broad-nasal-tip", "name": "Broad nasal tip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/broad-nasal-tip" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "facial-hypotonia", "name": "Decreased facial muscle tone", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/facial-hypotonia" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "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": "dental-crowding", "name": "Dental crowding", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dental-crowding" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "facial-asymmetry", "name": "Facial asymmetry", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/facial-asymmetry" }, { "slug": "falls", "name": "Falls", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/falls" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "few-cafe-au-lait-spots", "name": "Few cafe-au-lait spots", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/few-cafe-au-lait-spots" }, { "slug": "thick-vermilion-border", "name": "Full lips", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thick-vermilion-border" }, { "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": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "incoordination", "name": "Incoordination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/incoordination" }, { "slug": "inguinal-hernia", "name": "Inguinal hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/inguinal-hernia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "inverted-nipples", "name": "Inverted nipples", "systems": [ "abnormality-of-the-breast" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/inverted-nipples" }, { "slug": "macrotia", "name": "Large ears", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/macrotia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "hypernasal-speech", "name": "Nasal speech", "systems": [ "abnormality-of-the-voice" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypernasal-speech" }, { "slug": "pointed-chin", "name": "Pointed chin", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pointed-chin" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "protruding-tongue", "name": "Protruding tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/protruding-tongue" }, { "slug": "short-chin", "name": "Short chin", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-chin" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "single-transverse-palmar-crease", "name": "Single transverse palmar crease", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/single-transverse-palmar-crease" }, { "slug": "hypoplastic-fifth-toenail", "name": "Small fifth toenail", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplastic-fifth-toenail" }, { "slug": "submucous-cleft-hard-palate", "name": "Submucous cleft hard palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/submucous-cleft-hard-palate" }, { "slug": "wide-mouth", "name": "Wide mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wide-mouth" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "acsl4", "symbol": "ACSL4", "name": "acyl-CoA synthetase long chain family member 4", "shared": 1, "url": "https://dantelabs.com/cs/genes/acsl4" }, { "slug": "adk", "symbol": "ADK", "name": "adenosine kinase", "shared": 1, "url": "https://dantelabs.com/cs/genes/adk" }, { "slug": "adnp", "symbol": "ADNP", "name": "activity dependent neuroprotector homeobox", "shared": 1, "url": "https://dantelabs.com/cs/genes/adnp" }, { "slug": "aff2", "symbol": "AFF2", "name": "ALF transcription elongation factor 2", "shared": 1, "url": "https://dantelabs.com/cs/genes/aff2" }, { "slug": "ahdc1", "symbol": "AHDC1", "name": "AT-hook DNA binding motif containing 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/ahdc1" }, { "slug": "alkbh8", "symbol": "ALKBH8", "name": "alkB homolog 8, tRNA methyltransferase", "shared": 1, "url": "https://dantelabs.com/cs/genes/alkbh8" }, { "slug": "ank3", "symbol": "ANK3", "name": "ankyrin 3", "shared": 1, "url": "https://dantelabs.com/cs/genes/ank3" }, { "slug": "ankrd11", "symbol": "ANKRD11", "name": "ankyrin repeat domain 11", "shared": 1, "url": "https://dantelabs.com/cs/genes/ankrd11" }, { "slug": "ap1s2", "symbol": "AP1S2", "name": "adaptor related protein complex 1 subunit sigma 2", "shared": 1, "url": "https://dantelabs.com/cs/genes/ap1s2" }, { "slug": "ap2m1", "symbol": "AP2M1", "name": "adaptor related protein complex 2 subunit mu 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/ap2m1" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/cs/genes/arhgef9" }, { "slug": "arid1a", "symbol": "ARID1A", "name": "AT-rich interaction domain 1A", "shared": 1, "url": "https://dantelabs.com/cs/genes/arid1a" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }