{
  "url": "https://dantelabs.com/fr/genes/rtn2",
  "gene": {
    "slug": "rtn2",
    "symbol": "RTN2",
    "name": "reticulon 2",
    "hgnc": "HGNC:10468",
    "summary": null,
    "location": "19q13.32",
    "locusType": "gene with protein product",
    "aliases": [
      "NSP2",
      "NSPL1"
    ],
    "previousSymbols": [
      "SPG12"
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      "603183"
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    "uniprot": [
      "O75298"
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        {
          "symbol": "RELB",
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          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "CLASRP",
          "ensemblId": "ENSG00000104859",
          "biotype": "protein_coding",
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        {
          "symbol": "ZNF296",
          "ensemblId": "ENSG00000170684",
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          "symbol": "GEMIN7",
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          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "gemin7"
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        {
          "symbol": "MARK4",
          "ensemblId": "ENSG00000007047",
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          "symbol": "PPP1R37",
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          "strand": "+",
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        {
          "symbol": "NKPD1",
          "ensemblId": "ENSG00000179846",
          "biotype": "protein_coding",
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        {
          "symbol": "BLOC1S3",
          "ensemblId": "ENSG00000189114",
          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "TRAPPC6A",
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          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "EXOC3L2",
          "ensemblId": "ENSG00000283632",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "exoc3l2"
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        {
          "symbol": "CKM",
          "ensemblId": "ENSG00000104879",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ckm"
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        {
          "symbol": "KLC3",
          "ensemblId": "ENSG00000104892",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "klc3"
        },
        {
          "symbol": "ERCC2",
          "ensemblId": "ENSG00000104884",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "ercc2"
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        {
          "symbol": "PPP1R13L",
          "ensemblId": "ENSG00000104881",
          "biotype": "protein_coding",
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        {
          "symbol": "POLR1G",
          "ensemblId": "ENSG00000117877",
          "biotype": "protein_coding",
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          "slug": "polr1g"
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        {
          "symbol": "ERCC1",
          "ensemblId": "ENSG00000012061",
          "biotype": "protein_coding",
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        {
          "symbol": "FOSB",
          "ensemblId": "ENSG00000125740",
          "biotype": "protein_coding",
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        {
          "symbol": "PPM1N",
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          "biotype": "protein_coding",
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        {
          "symbol": "VASP",
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          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "OPA3",
          "ensemblId": "ENSG00000125741",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "opa3"
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        {
          "symbol": "GPR4",
          "ensemblId": "ENSG00000177464",
          "biotype": "protein_coding",
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          "slug": "gpr4"
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        {
          "symbol": "EML2",
          "ensemblId": "ENSG00000125746",
          "biotype": "protein_coding",
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          "slug": "eml2"
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        {
          "symbol": "GIPR",
          "ensemblId": "ENSG00000010310",
          "biotype": "protein_coding",
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        {
          "symbol": "SNRPD2",
          "ensemblId": "ENSG00000125743",
          "biotype": "protein_coding",
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          "slug": "snrpd2"
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        {
          "symbol": "QPCTL",
          "ensemblId": "ENSG00000011478",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "qpctl"
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        {
          "symbol": "FBXO46",
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          "biotype": "protein_coding",
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        {
          "symbol": "MEIOSIN",
          "ensemblId": "ENSG00000237452",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "meiosin"
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        {
          "symbol": "SIX5",
          "ensemblId": "ENSG00000177045",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "six5"
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        {
          "symbol": "DMPK",
          "ensemblId": "ENSG00000104936",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "dmpk"
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        {
          "symbol": "",
          "ensemblId": "ENSG00000268434",
          "biotype": "protein_coding",
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        },
        {
          "symbol": "DMWD",
          "ensemblId": "ENSG00000185800",
          "biotype": "protein_coding",
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          "end": 45792949,
          "strand": "-",
          "slug": "dmwd"
        },
        {
          "symbol": "RSPH6A",
          "ensemblId": "ENSG00000104941",
          "biotype": "protein_coding",
          "start": 45795713,
          "end": 45815308,
          "strand": "-",
          "slug": "rsph6a"
        },
        {
          "symbol": "SYMPK",
          "ensemblId": "ENSG00000125755",
          "biotype": "protein_coding",
          "start": 45815410,
          "end": 45866862,
          "strand": "-",
          "slug": "sympk"
        },
        {
          "symbol": "FOXA3",
          "ensemblId": "ENSG00000170608",
          "biotype": "protein_coding",
          "start": 45863989,
          "end": 45873798,
          "strand": "+",
          "slug": "foxa3"
        },
        {
          "symbol": "IRF2BP1",
          "ensemblId": "ENSG00000170604",
          "biotype": "protein_coding",
          "start": 45883608,
          "end": 45886141,
          "strand": "-",
          "slug": "irf2bp1"
        },
        {
          "symbol": "MYPOP",
          "ensemblId": "ENSG00000176182",
          "biotype": "protein_coding",
          "start": 45890020,
          "end": 45902808,
          "strand": "-",
          "slug": "mypop"
        },
        {
          "symbol": "NANOS2",
          "ensemblId": "ENSG00000188425",
          "biotype": "protein_coding",
          "start": 45913214,
          "end": 45914778,
          "strand": "-",
          "slug": "nanos2"
        },
        {
          "symbol": "NOVA2",
          "ensemblId": "ENSG00000104967",
          "biotype": "protein_coding",
          "start": 45933734,
          "end": 45974044,
          "strand": "-",
          "slug": "nova2"
        }
      ],
      "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": [
                "Ambry Genetics",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "hereditary-spastic-paraplegia",
        "name": "Paraplégie spastique héréditaire",
        "diseases": [
          {
            "mondoId": "MONDO:0011489",
            "name": "Paraplégie spastique héréditaire de type 12",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "La paraplégie spastique autosomique dominante de type 12 est une forme pure de paraplégie spastique héréditaire caractérisée par l'apparition, de l'enfance à l'âge adulte, d'une spasticité lentement progressive et d'une hyperréflexie des membres inférieurs, de réflexes cutanés plantaires en extension, de troubles sensitifs distaux, de troubles urinaires variables et de pieds creux.",
            "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": "inherited-neurodegenerative-disorders-selected-genes",
        "name": "Maladies neurodégénératives héréditaires",
        "diseases": [
          {
            "mondoId": "MONDO:0024237",
            "name": "Maladie neurodégénérative liée à KIF5A",
            "genes": 372,
            "inheritance": "autosomal-dominant",
            "description": "Causée par des modifications d'une copie du gène KIF5A, qui code une protéine motrice dotée d'une queue de liaison à sa cargaison. Différents types de modifications entraînent différentes affections : la paraplégie spastique héréditaire de type 10, une forme axonale de la maladie de Charcot-Marie-Tooth et la sclérose latérale amyotrophique (SLA).",
            "management": "La prise en charge est symptomatique et dépend de la forme clinique ; elle comprend la kinésithérapie, des médicaments contre la spasticité et un suivi pluridisciplinaire de la SLA. Chaque enfant d'une personne atteinte a une chance sur 2 d'hériter de la modification ; le conseil génétique aide les familles à comprendre ce risque.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/inherited-neurodegenerative-disorders-selected-genes"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Neuropathies périphériques héréditaires rares",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Neuropathie périphérique héréditaire",
            "genes": 233,
            "inheritance": null,
            "description": "Causée par des modifications dans l'un des nombreux gènes nécessaires au maintien en bon état des longues fibres nerveuses. Dans ce rapport, ces gènes comprennent IGHMBP2 et PLEKHG5, dont la transmission est récessive.",
            "management": "La kinésithérapie, les orthèses et l'ergothérapie aident à préserver la mobilité, avec une chirurgie des déformations du pied si nécessaire. Certaines formes nécessitent une surveillance respiratoire. Le conseil génétique oriente le dépistage familial selon le mode de transmission du gène concerné.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cerebrospinal-fluid-morphology",
        "name": "Abnormal cerebrospinal fluid morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-cerebrospinal-fluid-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-lower-limb-motor-evoked-potentials",
        "name": "Abnormal lower-limb motor evoked potentials",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-lower-limb-motor-evoked-potentials"
      },
      {
        "slug": "ankle-clonus",
        "name": "Abnormal rhythmic movements of ankle",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ankle-clonus"
      },
      {
        "slug": "absent-achilles-reflex",
        "name": "Absent ankle reflexes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-achilles-reflex"
      },
      {
        "slug": "action-tremor",
        "name": "Action tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/action-tremor"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "chronic-constipation",
        "name": "Chronic constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-constipation"
      },
      {
        "slug": "clonus",
        "name": "Clonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clonus"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "degeneration-of-the-lateral-corticospinal-tracts",
        "name": "Degeneration of the lateral corticospinal tracts",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/degeneration-of-the-lateral-corticospinal-tracts"
      },
      {
        "slug": "atrophy-of-the-spinal-cord",
        "name": "Degeneration of the spinal cord",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrophy-of-the-spinal-cord"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "distal-upper-limb-amyotrophy",
        "name": "Distal upper limb amyotrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-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": "obligate",
        "url": "https://dantelabs.com/traits/distal-upper-limb-muscle-weakness"
      },
      {
        "slug": "diplopia",
        "name": "Double vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diplopia"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "dysuria",
        "name": "Dull burning sensation with urination",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysuria"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "falls",
        "name": "Falls",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/falls"
      },
      {
        "slug": "fatty-replacement-of-skeletal-muscle",
        "name": "Fatty replacement of skeletal muscle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle"
      },
      {
        "slug": "female-sexual-dysfunction",
        "name": "Female sexual dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/female-sexual-dysfunction"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "hammertoe",
        "name": "Hammertoe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hammertoe"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "impaired-proprioception",
        "name": "Impaired proprioception",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-proprioception"
      },
      {
        "slug": "impaired-vibration-sensation-in-the-lower-limbs",
        "name": "Impaired vibration sensation in the lower limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "knee-clonus",
        "name": "Knee clonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/knee-clonus"
      },
      {
        "slug": "leg-muscle-stiffness",
        "name": "Leg muscle stiffness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/leg-muscle-stiffness"
      },
      {
        "slug": "limb-ataxia",
        "name": "Limb ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-ataxia"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/urinary-incontinence"
      },
      {
        "slug": "bowel-incontinence",
        "name": "Loss of bowel control",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bowel-incontinence"
      },
      {
        "slug": "lower-limb-amyotrophy",
        "name": "Lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-limb-amyotrophy"
      },
      {
        "slug": "lower-limb-hypertonia",
        "name": "Lower limb hypertonia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-hypertonia"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "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"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "male-sexual-dysfunction",
        "name": "Male sexual dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/male-sexual-dysfunction"
      },
      {
        "slug": "motor-axonal-neuropathy",
        "name": "Motor axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/motor-axonal-neuropathy"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "lower-limb-hyperreflexia",
        "name": "Overactive lower leg reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "positive-romberg-sign",
        "name": "Positive Romberg sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/positive-romberg-sign"
      },
      {
        "slug": "progressive-spastic-paraplegia",
        "name": "Progressive spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-spastic-paraplegia"
      },
      {
        "slug": "hyperlordosis",
        "name": "Prominent swayback",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperlordosis"
      },
      {
        "slug": "proximal-lower-limb-muscle-weakness",
        "name": "Proximal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proximal-lower-limb-muscle-weakness"
      },
      {
        "slug": "scissor-gait",
        "name": "Scissor gait",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/scissor-gait"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "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": "obligate",
        "url": "https://dantelabs.com/traits/spastic-gait"
      },
      {
        "slug": "spinal-cord-lesion",
        "name": "Spinal cord lesion",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spinal-cord-lesion"
      },
      {
        "slug": "tip-toe-gait",
        "name": "Toe walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tip-toe-gait"
      },
      {
        "slug": "upper-limb-spasticity",
        "name": "Uncontrollable movement in upper arms",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/upper-limb-spasticity"
      },
      {
        "slug": "upper-limb-hyperreflexia",
        "name": "Upper limb hyperreflexia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/upper-limb-hyperreflexia"
      },
      {
        "slug": "urinary-bladder-sphincter-dysfunction",
        "name": "Urinary bladder sphincter dysfunction",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urinary-bladder-sphincter-dysfunction"
      },
      {
        "slug": "urinary-urgency",
        "name": "Urinary urgency",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/urinary-urgency"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "weakness-of-long-finger-extensor-muscles",
        "name": "Weakness of long finger extensor muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weakness-of-long-finger-extensor-muscles"
      }
    ],
    "related": [
      {
        "slug": "bscl2",
        "symbol": "BSCL2",
        "name": "BSCL2 lipid droplet biogenesis associated, seipin",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/bscl2"
      },
      {
        "slug": "reep1",
        "symbol": "REEP1",
        "name": "receptor accessory protein 1",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/reep1"
      },
      {
        "slug": "sptan1",
        "symbol": "SPTAN1",
        "name": "spectrin alpha, non-erythrocytic 1",
        "shared": 4,
        "url": "https://dantelabs.com/fr/genes/sptan1"
      },
      {
        "slug": "atl1",
        "symbol": "ATL1",
        "name": "atlastin GTPase 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/atl1"
      },
      {
        "slug": "atp7a",
        "symbol": "ATP7A",
        "name": "ATPase copper transporting alpha",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/atp7a"
      },
      {
        "slug": "coq7",
        "symbol": "COQ7",
        "name": "coenzyme Q7, hydroxylase",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/coq7"
      },
      {
        "slug": "dctn1",
        "symbol": "DCTN1",
        "name": "dynactin subunit 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/dctn1"
      },
      {
        "slug": "dnajb2",
        "symbol": "DNAJB2",
        "name": "DnaJ heat shock protein family (Hsp40) member B2",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/dnajb2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/dync1h1"
      },
      {
        "slug": "emilin1",
        "symbol": "EMILIN1",
        "name": "elastin microfibril interfacer 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/emilin1"
      },
      {
        "slug": "fars2",
        "symbol": "FARS2",
        "name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/fars2"
      },
      {
        "slug": "fbxo38",
        "symbol": "FBXO38",
        "name": "F-box protein 38",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/fbxo38"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}