{
  "url": "https://dantelabs.com/sv/genes/lrp12",
  "gene": {
    "slug": "lrp12",
    "symbol": "LRP12",
    "name": "LDL receptor related protein 12",
    "hgnc": "HGNC:31708",
    "summary": null,
    "location": "8q22.3",
    "locusType": "gene with protein product",
    "aliases": [
      "ST7",
      "FLJ12929"
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    "previousSymbols": [],
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    "uniprot": [
      "Q9Y561"
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 104489236,
      "end": 104589258,
      "strand": "-",
      "ensemblTranscript": "ENST00000276654.10",
      "refseqTranscript": "NM_013437.5",
      "ensemblProtein": "ENSP00000276654.5",
      "refseqProtein": "NP_038465.1",
      "exons": [
        {
          "start": 104489236,
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        },
        {
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        {
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        {
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      ],
      "cds": {
        "start": 104490673,
        "end": 104588897
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 105501459,
      "end": 105601252,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 104039247,
      "end": 105039246,
      "genes": [
        {
          "symbol": "RIMS2",
          "ensemblId": "ENSG00000176406",
          "biotype": "protein_coding",
          "start": 103499638,
          "end": 104254698,
          "strand": "+",
          "slug": "rims2"
        },
        {
          "symbol": "DPYS",
          "ensemblId": "ENSG00000147647",
          "biotype": "protein_coding",
          "start": 104327415,
          "end": 104467111,
          "strand": "-",
          "slug": "dpys"
        },
        {
          "symbol": "DCSTAMP",
          "ensemblId": "ENSG00000164935",
          "biotype": "protein_coding",
          "start": 104339087,
          "end": 104356689,
          "strand": "+",
          "slug": "dcstamp"
        },
        {
          "symbol": "ZFPM2",
          "ensemblId": "ENSG00000169946",
          "biotype": "protein_coding",
          "start": 104590733,
          "end": 105805813,
          "strand": "+",
          "slug": "zfpm2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "distal-myopathies",
        "name": "Distala myopatier",
        "diseases": [
          {
            "mondoId": "MONDO:0018949",
            "name": "Distal myopati",
            "genes": 16,
            "inheritance": null,
            "description": "En grupp ärftliga muskelsjukdomar där svaghet börjar i händerna, underarmarna, underbenen eller fötterna. De orsakas av gener som TTN, DYSF, FLNC, MYH7, ADSS1, SMPX och MATR3.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/distal-myopathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-morphology-of-musculature-of-pharynx",
        "name": "Abnormal morphology of musculature of pharynx",
        "systems": [
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          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-musculature-of-pharynx"
      },
      {
        "slug": "abnormality-of-facial-musculature",
        "name": "Abnormality of facial muscles",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-facial-musculature"
      },
      {
        "slug": "abnormality-of-masseter-muscle",
        "name": "Abnormality of masseter muscle",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-masseter-muscle"
      },
      {
        "slug": "abnormality-of-orbicularis-oris-muscle",
        "name": "Abnormality of orbicularis oris muscle",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-orbicularis-oris-muscle"
      },
      {
        "slug": "abnormality-on-pulmonary-function-testing",
        "name": "Abnormality on pulmonary function testing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-on-pulmonary-function-testing"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "aspiration",
        "name": "Aspiration",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/aspiration"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autophagic-vacuoles",
        "name": "Autophagic vacuoles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/autophagic-vacuoles"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "bowing-of-the-vocal-cords",
        "name": "Bowing of the vocal cords",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bowing-of-the-vocal-cords"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "nasal-dysarthria",
        "name": "Breathy speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nasal-dysarthria"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "chaddock-reflex",
        "name": "Chaddock reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chaddock-reflex"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "upper-limb-muscle-weakness",
        "name": "Decreased arm strength",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/upper-limb-muscle-weakness"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "xerostomia",
        "name": "Decreased salivary flow",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/xerostomia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "difficulty-standing",
        "name": "Difficulty in standing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/difficulty-standing"
      },
      {
        "slug": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "difficulty-climbing-stairs",
        "name": "Difficulty walking up stairs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/difficulty-climbing-stairs"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      },
      {
        "slug": "distal-lower-limb-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "distal-amyotrophy",
        "name": "Distal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "distal-upper-limb-amyotrophy",
        "name": "Distal upper limb amyotrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-upper-limb-amyotrophy"
      },
      {
        "slug": "distal-upper-limb-muscle-weakness",
        "name": "Distal upper limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-upper-limb-muscle-weakness"
      },
      {
        "slug": "drooling",
        "name": "Drooling",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/drooling"
      },
      {
        "slug": "bilateral-ptosis",
        "name": "Drooping of both upper eyelids",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bilateral-ptosis"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "emg-myopathic-abnormalities",
        "name": "EMG: myopathic abnormalities",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities"
      },
      {
        "slug": "emg-myotonic-discharges",
        "name": "EMG: myotonic discharges",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emg-myotonic-discharges"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "fatigable-weakness-of-bulbar-muscles",
        "name": "Fatigable weakness of bulbar muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigable-weakness-of-bulbar-muscles"
      },
      {
        "slug": "fatigable-weakness-of-respiratory-muscles",
        "name": "Fatigable weakness of respiratory muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigable-weakness-of-respiratory-muscles"
      },
      {
        "slug": "fatigable-weakness-of-swallowing-muscles",
        "name": "Fatigable weakness of swallowing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigable-weakness-of-swallowing-muscles"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fiber-type-grouping",
        "name": "Fiber type grouping",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fiber-type-grouping"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "frontotemporal-dementia",
        "name": "Frontotemporal dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frontotemporal-dementia"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "hypercapnia",
        "name": "High blood carbon dioxide level",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypercapnia"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "steppage-gait",
        "name": "High stepping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/steppage-gait"
      },
      {
        "slug": "high-narrow-palate",
        "name": "High, narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-narrow-palate"
      },
      {
        "slug": "hoffmann-sign",
        "name": "Hoffmann sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hoffmann-sign"
      },
      {
        "slug": "impaired-oropharyngeal-swallow-response",
        "name": "Impaired oropharyngeal swallow response",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-oropharyngeal-swallow-response"
      },
      {
        "slug": "dysphonia",
        "name": "Inability to produce voice sounds",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dysphonia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "jaw-hyperreflexia",
        "name": "Jaw hyperreflexia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/jaw-hyperreflexia"
      },
      {
        "slug": "language-impairment",
        "name": "Language impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/language-impairment"
      },
      {
        "slug": "laryngospasm",
        "name": "Laryngospasm",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/laryngospasm"
      },
      {
        "slug": "paraplegia",
        "name": "Leg paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/paraplegia"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "amyotrophic-lateral-sclerosis",
        "name": "Lou Gehrig's disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/amyotrophic-lateral-sclerosis"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "motor-neuron-atrophy",
        "name": "Motor neuron atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/motor-neuron-atrophy"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "fasciculations",
        "name": "Muscle twitch",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fasciculations"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "myopathic-facies",
        "name": "Myopathic facies",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myopathic-facies"
      },
      {
        "slug": "hypernasal-speech",
        "name": "Nasal speech",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "url": "https://dantelabs.com/traits/hypernasal-speech"
      },
      {
        "slug": "neurodegeneration",
        "name": "Ongoing loss of nerve cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/neurodegeneration"
      },
      {
        "slug": "oral-pharyngeal-dysphagia",
        "name": "Oral-pharyngeal dysphagia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oral-pharyngeal-dysphagia"
      },
      {
        "slug": "orthopnea",
        "name": "Orthopnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/orthopnea"
      },
      {
        "slug": "pain",
        "name": "Pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pain"
      },
      {
        "slug": "paralysis",
        "name": "Paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paralysis"
      },
      {
        "slug": "external-ophthalmoplegia",
        "name": "Paralysis or weakness of muscles within or surrounding outer part of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/external-ophthalmoplegia"
      },
      {
        "slug": "paroxysmal-atrial-fibrillation",
        "name": "Paroxysmal atrial fibrillation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-atrial-fibrillation"
      },
      {
        "slug": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "progressive-distal-muscle-weakness",
        "name": "Progressive distal muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-distal-muscle-weakness"
      },
      {
        "slug": "progressive-distal-muscular-atrophy",
        "name": "Progressive distal muscular atrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-distal-muscular-atrophy"
      },
      {
        "slug": "progressive-ptosis",
        "name": "Progressive drooping of upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-ptosis"
      },
      {
        "slug": "progressive-external-ophthalmoplegia",
        "name": "Progressive external ophthalmoplegia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-external-ophthalmoplegia"
      },
      {
        "slug": "progressive-proximal-muscle-weakness",
        "name": "Progressive proximal muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-proximal-muscle-weakness"
      },
      {
        "slug": "progressive-sensorineural-hearing-impairment",
        "name": "Progressive sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-sensorineural-hearing-impairment"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "proximal-upper-limb-muscle-weakness",
        "name": "Proximal upper limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/proximal-upper-limb-muscle-weakness"
      },
      {
        "slug": "recurrent-aspiration-pneumonia",
        "name": "Recurrent aspiration pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-aspiration-pneumonia"
      },
      {
        "slug": "reduced-forced-vital-capacity",
        "name": "Reduced forced vital capacity",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-forced-vital-capacity"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "rimmed-vacuoles",
        "name": "Rimmed vacuoles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rimmed-vacuoles"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "spastic-paraparesis",
        "name": "Spastic paraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spastic-paraparesis"
      },
      {
        "slug": "restrictive-ventilatory-defect",
        "name": "Stiff lung or chest wall causing decreased lung volume",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "tibialis-muscle-weakness",
        "name": "Tibialis muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tibialis-muscle-weakness"
      },
      {
        "slug": "tongue-muscle-weakness",
        "name": "Tongue muscle weakness",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tongue-muscle-weakness"
      },
      {
        "slug": "tongue-fasciculations",
        "name": "Tongue twitching",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tongue-fasciculations"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "tongue-atrophy",
        "name": "Wasting of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tongue-atrophy"
      },
      {
        "slug": "cachexia",
        "name": "Wasting syndrome",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cachexia"
      },
      {
        "slug": "weakness-of-facial-musculature",
        "name": "Weakness of facial musculature",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weakness-of-facial-musculature"
      },
      {
        "slug": "ophthalmoparesis",
        "name": "Weakness of muscles controlling eye movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ophthalmoparesis"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      },
      {
        "slug": "vocal-cord-paresis",
        "name": "Weakness of the vocal cords",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vocal-cord-paresis"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "adss1",
        "symbol": "ADSS1",
        "name": "adenylosuccinate synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/adss1"
      },
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ano5"
      },
      {
        "slug": "cryab",
        "symbol": "CRYAB",
        "name": "crystallin alpha B",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cryab"
      },
      {
        "slug": "dnajb4",
        "symbol": "DNAJB4",
        "name": "DnaJ heat shock protein family (Hsp40) member B4",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dnajb4"
      },
      {
        "slug": "dysf",
        "symbol": "DYSF",
        "name": "dysferlin",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dysf"
      },
      {
        "slug": "flnc",
        "symbol": "FLNC",
        "name": "filamin C",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/flnc"
      },
      {
        "slug": "gipc1",
        "symbol": "GIPC1",
        "name": "GIPC PDZ domain containing family member 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/gipc1"
      },
      {
        "slug": "gne",
        "symbol": "GNE",
        "name": "glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/gne"
      },
      {
        "slug": "ldb3",
        "symbol": "LDB3",
        "name": "LIM domain binding 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ldb3"
      },
      {
        "slug": "matr3",
        "symbol": "MATR3",
        "name": "matrin 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/matr3"
      },
      {
        "slug": "myh7",
        "symbol": "MYH7",
        "name": "myosin heavy chain 7",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/myh7"
      },
      {
        "slug": "myot",
        "symbol": "MYOT",
        "name": "myotilin",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/myot"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}