{
  "url": "https://dantelabs.com/fr/genes/bscl2",
  "gene": {
    "slug": "bscl2",
    "symbol": "BSCL2",
    "name": "BSCL2 lipid droplet biogenesis associated, seipin",
    "hgnc": "HGNC:15832",
    "summary": null,
    "location": "11q12.3",
    "locusType": "gene with protein product",
    "aliases": [
      "seipin"
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      "GNG3LG",
      "SPG17"
    ],
    "ensemblId": "ENSG00000168000",
    "entrezId": 26580,
    "omim": [
      "606158"
    ],
    "uniprot": [
      "Q96G97"
    ],
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      "release": "v1.5",
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      "end": 62707424,
      "strand": "-",
      "ensemblTranscript": "ENST00000360796.10",
      "refseqTranscript": "NM_001122955.4",
      "ensemblProtein": "ENSP00000354032.5",
      "refseqProtein": "NP_001116427.1",
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      ],
      "cds": {
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        "end": 62707195
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
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      "end": 62477317,
      "strand": "-"
    },
    "neighbourhood": {
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        {
          "symbol": "SCGB2A1",
          "ensemblId": "ENSG00000124939",
          "biotype": "protein_coding",
          "start": 62208666,
          "end": 62213943,
          "strand": "+",
          "slug": "scgb2a1"
        },
        {
          "symbol": "SCGB1D2",
          "ensemblId": "ENSG00000124935",
          "biotype": "protein_coding",
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          "end": 62244812,
          "strand": "+",
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        },
        {
          "symbol": "SCGB2A2",
          "ensemblId": "ENSG00000110484",
          "biotype": "protein_coding",
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        {
          "symbol": "SCGB1D4",
          "ensemblId": "ENSG00000197745",
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        {
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          "ensemblId": "ENSG00000162174",
          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "SCGB1A1",
          "ensemblId": "ENSG00000149021",
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          "strand": "+",
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        },
        {
          "symbol": "AHNAK",
          "ensemblId": "ENSG00000124942",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ahnak"
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        {
          "symbol": "EEF1G",
          "ensemblId": "ENSG00000254772",
          "biotype": "protein_coding",
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        {
          "symbol": "",
          "ensemblId": "ENSG00000255508",
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        {
          "symbol": "TUT1",
          "ensemblId": "ENSG00000149016",
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        {
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          "biotype": "protein_coding",
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        {
          "symbol": "EML3",
          "ensemblId": "ENSG00000149499",
          "biotype": "protein_coding",
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          "slug": "eml3"
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        {
          "symbol": "ROM1",
          "ensemblId": "ENSG00000149489",
          "biotype": "protein_coding",
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          "slug": "rom1"
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        {
          "symbol": "B3GAT3",
          "ensemblId": "ENSG00000149541",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "b3gat3"
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        {
          "symbol": "GANAB",
          "ensemblId": "ENSG00000089597",
          "biotype": "protein_coding",
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          "slug": "ganab"
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        {
          "symbol": "INTS5",
          "ensemblId": "ENSG00000185085",
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        {
          "symbol": "",
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        {
          "symbol": "C11orf98",
          "ensemblId": "ENSG00000278615",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "LBHD1",
          "ensemblId": "ENSG00000162194",
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          "slug": "lbhd1"
        },
        {
          "symbol": "CSKMT",
          "ensemblId": "ENSG00000214756",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "cskmt"
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        {
          "symbol": "UQCC3",
          "ensemblId": "ENSG00000204922",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "UBXN1",
          "ensemblId": "ENSG00000162191",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ubxn1"
        },
        {
          "symbol": "LRRN4CL",
          "ensemblId": "ENSG00000177363",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "lrrn4cl"
        },
        {
          "symbol": "HNRNPUL2-BSCL2",
          "ensemblId": "ENSG00000234857",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "hnrnpul2-bscl2"
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        {
          "symbol": "GNG3",
          "ensemblId": "ENSG00000162188",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "HNRNPUL2",
          "ensemblId": "ENSG00000214753",
          "biotype": "protein_coding",
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        {
          "symbol": "",
          "ensemblId": "ENSG00000310599",
          "biotype": "protein_coding",
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          "strand": "-"
        },
        {
          "symbol": "TTC9C",
          "ensemblId": "ENSG00000162222",
          "biotype": "protein_coding",
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          "end": 62740293,
          "strand": "+",
          "slug": "ttc9c"
        },
        {
          "symbol": "ZBTB3",
          "ensemblId": "ENSG00000185670",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "zbtb3"
        },
        {
          "symbol": "POLR2G",
          "ensemblId": "ENSG00000168002",
          "biotype": "protein_coding",
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          "slug": "polr2g"
        },
        {
          "symbol": "TAF6L",
          "ensemblId": "ENSG00000162227",
          "biotype": "protein_coding",
          "start": 62771307,
          "end": 62787342,
          "strand": "+",
          "slug": "taf6l"
        },
        {
          "symbol": "TMEM223",
          "ensemblId": "ENSG00000168569",
          "biotype": "protein_coding",
          "start": 62771629,
          "end": 62792022,
          "strand": "-",
          "slug": "tmem223"
        },
        {
          "symbol": "TMEM179B",
          "ensemblId": "ENSG00000185475",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "tmem179b"
        },
        {
          "symbol": "NXF1",
          "ensemblId": "ENSG00000162231",
          "biotype": "protein_coding",
          "start": 62792123,
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          "strand": "-",
          "slug": "nxf1"
        },
        {
          "symbol": "STX5",
          "ensemblId": "ENSG00000162236",
          "biotype": "protein_coding",
          "start": 62806860,
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          "strand": "-",
          "slug": "stx5"
        },
        {
          "symbol": "TEX54",
          "ensemblId": "ENSG00000283268",
          "biotype": "protein_coding",
          "start": 62832321,
          "end": 62832841,
          "strand": "-",
          "slug": "tex54"
        },
        {
          "symbol": "WDR74",
          "ensemblId": "ENSG00000133316",
          "biotype": "protein_coding",
          "start": 62832342,
          "end": 62842228,
          "strand": "-",
          "slug": "wdr74"
        },
        {
          "symbol": "RNU2-2",
          "ensemblId": "ENSG00000222328",
          "biotype": "other",
          "start": 62841619,
          "end": 62841809,
          "strand": "-",
          "slug": "rnu2-2"
        },
        {
          "symbol": "SLC3A2",
          "ensemblId": "ENSG00000168003",
          "biotype": "protein_coding",
          "start": 62855970,
          "end": 62888910,
          "strand": "+",
          "slug": "slc3a2"
        },
        {
          "symbol": "CHRM1",
          "ensemblId": "ENSG00000168539",
          "biotype": "protein_coding",
          "start": 62907828,
          "end": 62921877,
          "strand": "-",
          "slug": "chrm1"
        },
        {
          "symbol": "SLC22A6",
          "ensemblId": "ENSG00000197901",
          "biotype": "protein_coding",
          "start": 62936385,
          "end": 62984973,
          "strand": "-",
          "slug": "slc22a6"
        },
        {
          "symbol": "SLC22A8",
          "ensemblId": "ENSG00000149452",
          "biotype": "protein_coding",
          "start": 62989154,
          "end": 63017561,
          "strand": "-",
          "slug": "slc22a8"
        },
        {
          "symbol": "SLC22A24",
          "ensemblId": "ENSG00000197658",
          "biotype": "protein_coding",
          "start": 63077406,
          "end": 63144221,
          "strand": "-",
          "slug": "slc22a24"
        },
        {
          "symbol": "SLC22A25",
          "ensemblId": "ENSG00000196600",
          "biotype": "protein_coding",
          "start": 63158437,
          "end": 63243788,
          "strand": "-",
          "slug": "slc22a25"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Maladie de Charcot-Marie-Tooth",
        "diseases": [
          {
            "mondoId": "MONDO:0018894",
            "name": "Neuropathie motrice héréditaire distale",
            "genes": 22,
            "inheritance": null,
            "description": "Neuropathies héréditaires touchant principalement les nerfs moteurs, provoquant une faiblesse et une atrophie des mains et des pieds, y compris la neuropathie liée à SORD.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabète sucré",
        "diseases": [
          {
            "mondoId": "MONDO:0005015",
            "name": "Diabète sucré",
            "genes": 31,
            "inheritance": null,
            "description": "Trouble métabolique caractérisé par une glycémie anormalement élevée, résultant d'une diminution de la production d'insuline ou d'une résistance/désensibilisation à l'insuline.",
            "management": "Teplizumab (Tzield) pour le DT1 présymptomatique de stade 2 (approuvé par la FDA en 2022) ; insulinothérapie substitutive dès le début clinique du DT1 ; dépistage des auto-anticorps TrialNet pour les proches à haut risque ; systèmes de délivrance d'insuline en boucle fermée",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/diabetes-mellitus"
      },
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Paraplégie spastique héréditaire",
        "diseases": [
          {
            "mondoId": "MONDO:0010043",
            "name": "Paraplégie spastique héréditaire de type 17",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Toute paraplégie spastique héréditaire dont la cause est une mutation du gène BSCL2.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019064",
            "name": "Paraplégie spastique héréditaire (tous types)",
            "genes": 66,
            "inheritance": null,
            "description": "Terme général regroupant toutes les paraplégies spastiques héréditaires, y compris SPG4 (SPAST), la forme dominante la plus fréquente, ainsi que SPG5A, SPG6, SPG10, SPG18, SPG30 et SPG31.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/hereditary-spastic-paraplegia"
      },
      {
        "slug": "lipodystrophy",
        "name": "Lipodystrophie",
        "diseases": [
          {
            "mondoId": "MONDO:0018883",
            "name": "Lipodystrophie congénitale de Berardinelli-Seip",
            "genes": 3,
            "inheritance": "autosomal-recessive",
            "description": "Une lipodystrophie caractérisée par l'association d'une lipoatrophie, d'une hypertriglycéridémie, d'une hépatomégalie et de traits acromégaloïdes. La BSCL appartient au groupe des syndromes de résistance extrême à l'insuline, qui comprend également le lépréchaunisme, le syndrome de Rabson-Mendenhall, la lipodystrophie généralisée acquise et les résistances à l'insuline de types A et B.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0006536",
            "name": "Lipodystrophie congénitale généralisée",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Une affection autosomique récessive extrêmement rare, caractérisée par une quasi-absence de tissu adipeux dans les tissus sous-cutanés.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/lipodystrophy"
      },
      {
        "slug": "neonatal-diabetes-mellitus",
        "name": "Diabète néonatal",
        "diseases": [
          {
            "mondoId": "MONDO:0016391",
            "name": "Diabète néonatal",
            "genes": 20,
            "inheritance": null,
            "description": "Diabète diagnostiqué au cours des premiers mois de vie, permanent ou transitoire, causé par des anomalies d'un seul gène affectant la production ou la sécrétion d'insuline.",
            "management": "La plupart des personnes atteintes d'un diabète néonatal lié à KCNJ11 ou ABCC8 peuvent passer des injections d'insuline à des comprimés de sulfonylurées, souvent avec un meilleur contrôle de la glycémie.",
            "evidence": {
              "gencc": [
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/neonatal-diabetes-mellitus"
      },
      {
        "slug": "spinal-muscular-atrophy",
        "name": "Amyotrophie spinale",
        "diseases": [
          {
            "mondoId": "MONDO:0001516",
            "name": "Amyotrophie spinale",
            "genes": 28,
            "inheritance": null,
            "description": "Groupe d'affections caractérisées par la dégénérescence des cellules de la corne antérieure de la moelle épinière, entraînant une faiblesse et une atrophie musculaires progressives.",
            "management": "Thérapie génique (onasemnogene abeparvovec), traitement par oligonucléotides antisens (nusinersen), modulateur d'épissage par voie orale (risdiplam), soins de support",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/spinal-muscular-atrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-foot-musculature",
        "name": "Abnormal foot muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-foot-musculature"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-motor-nerve-conduction-velocity",
        "name": "Abnormal motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-motor-nerve-conduction-velocity"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "acute-pancreatitis",
        "name": "Acute pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/acute-pancreatitis"
      },
      {
        "slug": "accelerated-skeletal-maturation",
        "name": "Advanced bone age",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation"
      },
      {
        "slug": "ankle-weakness",
        "name": "Ankle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ankle-weakness"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "mandibular-prognathia",
        "name": "Big lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/mandibular-prognathia"
      },
      {
        "slug": "insulin-resistance",
        "name": "Body fails to respond to insulin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/insulin-resistance"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "caudate-atrophy",
        "name": "Caudate atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/caudate-atrophy"
      },
      {
        "slug": "chaddock-reflex",
        "name": "Chaddock reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chaddock-reflex"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "cold-induced-hand-cramps",
        "name": "Cold-induced hand cramps",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cold-induced-hand-cramps"
      },
      {
        "slug": "cystic-angiomatosis-of-bone",
        "name": "Cystic angiomatosis of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/cystic-angiomatosis-of-bone"
      },
      {
        "slug": "acanthosis-nigricans",
        "name": "Darkened and thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/acanthosis-nigricans"
      },
      {
        "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": "decreased-compound-muscle-action-potential-amplitude",
        "name": "Decreased compound muscle action potential amplitude",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-compound-muscle-action-potential-amplitude"
      },
      {
        "slug": "decreased-fertility",
        "name": "Decreased fertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-fertility"
      },
      {
        "slug": "decreased-fertility-in-females",
        "name": "Decreased fertility in females",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-fertility-in-females"
      },
      {
        "slug": "decreased-motor-nerve-conduction-velocity",
        "name": "Decreased motor nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "decreased-serum-leptin",
        "name": "Decreased serum leptin",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-serum-leptin"
      },
      {
        "slug": "impaired-distal-tactile-sensation",
        "name": "Decreased touch sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-distal-tactile-sensation"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "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": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "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": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-hemoglobin-a1c",
        "name": "Elevated hemoglobin A1c",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-hemoglobin-a1c"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "clitoral-hypertrophy",
        "name": "Enlarged clitoris",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/clitoral-hypertrophy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "labial-hypertrophy",
        "name": "Enlargement of the labia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/labial-hypertrophy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "hirsutism",
        "name": "Excessive hairiness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/hirsutism"
      },
      {
        "slug": "generalized-hirsutism",
        "name": "Excessive hairiness over body",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-hirsutism"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "first-dorsal-interossei-muscle-atrophy",
        "name": "First dorsal interossei muscle atrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/first-dorsal-interossei-muscle-atrophy"
      },
      {
        "slug": "first-dorsal-interossei-muscle-weakness",
        "name": "First dorsal interossei muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/first-dorsal-interossei-muscle-weakness"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "generalized-lipodystrophy",
        "name": "Generalized lipodystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-lipodystrophy"
      },
      {
        "slug": "generalized-muscular-appearance-from-birth",
        "name": "Generalized muscular appearance from birth",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-muscular-appearance-from-birth"
      },
      {
        "slug": "hammertoe",
        "name": "Hammertoe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hammertoe"
      },
      {
        "slug": "hand-muscle-atrophy",
        "name": "Hand muscle degeneration",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hand-muscle-atrophy"
      },
      {
        "slug": "hand-muscle-weakness",
        "name": "Hand muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hand-muscle-weakness"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "abnormally-high-pitched-voice",
        "name": "High pitched voice",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormally-high-pitched-voice"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hip-pain",
        "name": "Hip pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-pain"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "impaired-distal-proprioception",
        "name": "Impaired distal proprioception",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-distal-proprioception"
      },
      {
        "slug": "impaired-vibration-sensation-in-the-lower-limbs",
        "name": "Impaired vibration sensation in the lower limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs"
      },
      {
        "slug": "impaired-vibratory-sensation",
        "name": "Impaired vibratory sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-vibratory-sensation"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "lipodystrophy",
        "name": "Inability to make and keep healthy fat tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/lipodystrophy"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "polyphagia",
        "name": "Increased appetite",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/polyphagia"
      },
      {
        "slug": "hypertriglyceridemia",
        "name": "Increased plasma triglycerides",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertriglyceridemia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "insulin-resistant-diabetes-mellitus-at-puberty",
        "name": "Insulin-resistant diabetes mellitus at puberty",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "url": "https://dantelabs.com/traits/insulin-resistant-diabetes-mellitus-at-puberty"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "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": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "knee-pain",
        "name": "Knee pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/knee-pain"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "slug": "large-hands",
        "name": "Large hands",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/large-hands"
      },
      {
        "slug": "limb-dystonia",
        "name": "Limb dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/limb-dystonia"
      },
      {
        "slug": "long-foot",
        "name": "Long foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/long-foot"
      },
      {
        "slug": "neuronal-loss-in-central-nervous-system",
        "name": "Loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neuronal-loss-in-central-nervous-system"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "loss-of-speech",
        "name": "Loss of speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/loss-of-speech"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "lower-limb-spasticity",
        "name": "Lower limb spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "motor-polyneuropathy",
        "name": "Motor polyneuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-polyneuropathy"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "type-ii-diabetes-mellitus",
        "name": "Noninsulin-dependent diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus"
      },
      {
        "slug": "pes-valgus",
        "name": "Pes valgus",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pes-valgus"
      },
      {
        "slug": "polycystic-ovaries",
        "name": "Polycystic ovaries",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/polycystic-ovaries"
      },
      {
        "slug": "postural-tremor",
        "name": "Postural tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/postural-tremor"
      },
      {
        "slug": "progressive-encephalopathy",
        "name": "Progressive brain disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/progressive-encephalopathy"
      },
      {
        "slug": "progressive-psychomotor-deterioration",
        "name": "Progressive psychomotor deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-psychomotor-deterioration"
      },
      {
        "slug": "prominent-umbilicus",
        "name": "Prominent belly button",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/prominent-umbilicus"
      },
      {
        "slug": "reduced-subcutaneous-adipose-tissue",
        "name": "Reduced fat tissue below the skin",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-subcutaneous-adipose-tissue"
      },
      {
        "slug": "reduced-intraabdominal-adipose-tissue",
        "name": "Reduced intraabdominal adipose tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-intraabdominal-adipose-tissue"
      },
      {
        "slug": "reduced-intrathoracic-adipose-tissue",
        "name": "Reduced intrathoracic adipose tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/reduced-intrathoracic-adipose-tissue"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "slug": "cirrhosis",
        "name": "Scar tissue replaces healthy tissue in the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cirrhosis"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "spastic-gait",
        "name": "Spastic walk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "split-hand",
        "name": "Split hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/split-hand"
      },
      {
        "slug": "tall-stature",
        "name": "Tall stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/tall-stature"
      },
      {
        "slug": "tetraparesis",
        "name": "Tetraparesis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tetraparesis"
      },
      {
        "slug": "thenar-muscle-atrophy",
        "name": "Thenar muscle atrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thenar-muscle-atrophy"
      },
      {
        "slug": "thenar-muscle-weakness",
        "name": "Thenar muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thenar-muscle-weakness"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "ventricular-septal-hypertrophy",
        "name": "Ventricular septal hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/ventricular-septal-hypertrophy"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      }
    ],
    "related": [
      {
        "slug": "reep1",
        "symbol": "REEP1",
        "name": "receptor accessory protein 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/reep1"
      },
      {
        "slug": "sptan1",
        "symbol": "SPTAN1",
        "name": "spectrin alpha, non-erythrocytic 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/sptan1"
      },
      {
        "slug": "abcc8",
        "symbol": "ABCC8",
        "name": "ATP binding cassette subfamily C member 8",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/abcc8"
      },
      {
        "slug": "agpat2",
        "symbol": "AGPAT2",
        "name": "1-acylglycerol-3-phosphate O-acyltransferase 2",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/agpat2"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/atp7a"
      },
      {
        "slug": "cav1",
        "symbol": "CAV1",
        "name": "caveolin 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/cav1"
      },
      {
        "slug": "dctn1",
        "symbol": "DCTN1",
        "name": "dynactin subunit 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/dctn1"
      },
      {
        "slug": "dnajb2",
        "symbol": "DNAJB2",
        "name": "DnaJ heat shock protein family (Hsp40) member B2",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/dnajb2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/dync1h1"
      },
      {
        "slug": "eif2b1",
        "symbol": "EIF2B1",
        "name": "eukaryotic translation initiation factor 2B subunit alpha",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/eif2b1"
      },
      {
        "slug": "emilin1",
        "symbol": "EMILIN1",
        "name": "elastin microfibril interfacer 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/emilin1"
      },
      {
        "slug": "fbxo38",
        "symbol": "FBXO38",
        "name": "F-box protein 38",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/fbxo38"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}