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"phenotypes": [ { "slug": "axial-muscle-weakness", "name": "Axial muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/axial-muscle-weakness" }, { "slug": "chronic-constipation", "name": "Chronic constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-constipation" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "diastema", "name": "Gap between teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diastema" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "highly-arched-eyebrow", "name": "Highly arched eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/highly-arched-eyebrow" }, { "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": "lateral-ventricle-dilatation", "name": "Lateral ventricle dilatation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation" }, { "slug": "loud-snoring", "name": "Loud snoring", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/loud-snoring" }, { "slug": "low-posterior-hairline", "name": "Low hairline at back of neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/low-posterior-hairline" }, { "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": "sleep-apnea", "name": "Pauses in breathing while sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sleep-apnea" }, { "slug": "peg-shaped-maxillary-lateral-incisors", "name": "Peg-shaped maxillary lateral incisors", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/peg-shaped-maxillary-lateral-incisors" }, { "slug": "protruding-ear", "name": "Prominent ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/protruding-ear" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "retrognathia", "name": "Receding chin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retrognathia" }, { "slug": "reduced-cerebral-white-matter-volume", "name": "Reduced cerebral white matter volume", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-cerebral-white-matter-volume" }, { "slug": "self-injurious-behavior", "name": "Self-injurious behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/self-injurious-behavior" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "tapered-finger", "name": "Tapered finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tapered-finger" }, { "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" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }