{
  "url": "https://dantelabs.com/de/genes/gdap1",
  "gene": {
    "slug": "gdap1",
    "symbol": "GDAP1",
    "name": "ganglioside induced differentiation associated protein 1",
    "hgnc": "HGNC:15968",
    "summary": null,
    "location": "8q21.11",
    "locusType": "gene with protein product",
    "aliases": [
      "CMT4",
      "CMT2K"
    ],
    "previousSymbols": [
      "CMT4A"
    ],
    "ensemblId": "ENSG00000104381",
    "entrezId": 54332,
    "omim": [
      "606598"
    ],
    "uniprot": [
      "Q8TB36"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "8",
      "start": 74350403,
      "end": 74366876,
      "strand": "+",
      "ensemblTranscript": "ENST00000220822.12",
      "refseqTranscript": "NM_018972.4",
      "ensemblProtein": "ENSP00000220822.7",
      "refseqProtein": "NP_061845.2",
      "exons": [
        {
          "start": 74350403,
          "end": 74350578
        },
        {
          "start": 74351274,
          "end": 74351466
        },
        {
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          "end": 74360310
        },
        {
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          "end": 74361978
        },
        {
          "start": 74362939,
          "end": 74363053
        },
        {
          "start": 74363985,
          "end": 74366876
        }
      ],
      "cds": {
        "start": 74350462,
        "end": 74364367
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "8",
      "start": 75233365,
      "end": 75401107,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 73858640,
      "end": 74858639,
      "genes": [
        {
          "symbol": "",
          "ensemblId": "ENSG00000258677",
          "biotype": "protein_coding",
          "start": 73688691,
          "end": 73878854,
          "strand": "-"
        },
        {
          "symbol": "UBE2W",
          "ensemblId": "ENSG00000104343",
          "biotype": "protein_coding",
          "start": 73756076,
          "end": 73878913,
          "strand": "-",
          "slug": "ube2w"
        },
        {
          "symbol": "ELOC",
          "ensemblId": "ENSG00000154582",
          "biotype": "protein_coding",
          "start": 73930172,
          "end": 73972311,
          "strand": "-",
          "slug": "eloc"
        },
        {
          "symbol": "TMEM70",
          "ensemblId": "ENSG00000175606",
          "biotype": "protein_coding",
          "start": 73972437,
          "end": 73986514,
          "strand": "+",
          "slug": "tmem70"
        },
        {
          "symbol": "LY96",
          "ensemblId": "ENSG00000154589",
          "biotype": "protein_coding",
          "start": 73991346,
          "end": 74032658,
          "strand": "+",
          "slug": "ly96"
        },
        {
          "symbol": "JPH1",
          "ensemblId": "ENSG00000104369",
          "biotype": "protein_coding",
          "start": 74234700,
          "end": 74321607,
          "strand": "-",
          "slug": "jph1"
        },
        {
          "symbol": "PI15",
          "ensemblId": "ENSG00000137558",
          "biotype": "protein_coding",
          "start": 74824478,
          "end": 74855029,
          "strand": "+",
          "slug": "pi15"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Charcot-Marie-Tooth-Krankheit",
        "diseases": [
          {
            "mondoId": "MONDO:0015626",
            "name": "Charcot-Marie-Tooth-Krankheit",
            "genes": 62,
            "inheritance": null,
            "description": "Eine Gruppe erblicher peripherer Neuropathien, die zu fortschreitender Schwäche und Atrophie der distalen Muskulatur sowie zu Empfindungsverlust führen, vor allem an Füßen und Händen.",
            "management": "Genetische Beratung, subtypspezifische Überwachung, Physiotherapie, orthopädische Hilfsmittel, Vermeidung neurotoxischer Medikamente, genspezifische klinische Studien, Überwachung von Begleitsymptomen",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/de/conditions/charcot-marie-tooth-disease-type-1"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-foot-morphology",
        "name": "Abnormal feet structure",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-foot-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormal-thorax-morphology",
        "name": "Abnormality of the chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-thorax-morphology"
      },
      {
        "slug": "abnormality-of-the-vertebral-column",
        "name": "Abnormality of the vertebral column",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-vertebral-column"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "angulated-muscle-fibers",
        "name": "Angulated muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/angulated-muscle-fibers"
      },
      {
        "slug": "axonal-degeneration",
        "name": "Axonal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/axonal-degeneration"
      },
      {
        "slug": "axonal-loss",
        "name": "Axonal loss",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/axonal-loss"
      },
      {
        "slug": "axonal-regeneration",
        "name": "Axonal regeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/axonal-regeneration"
      },
      {
        "slug": "basal-lamina-onion-bulb-formation",
        "name": "Basal lamina onion bulb formation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/basal-lamina-onion-bulb-formation"
      },
      {
        "slug": "chronic-axonal-neuropathy",
        "name": "Chronic axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/chronic-axonal-neuropathy"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "bilateral-talipes-equinovarus",
        "name": "Club foot on both sides",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-talipes-equinovarus"
      },
      {
        "slug": "impaired-tandem-gait",
        "name": "Clumsy tandem walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-tandem-gait"
      },
      {
        "slug": "clusters-of-axonal-regeneration",
        "name": "Clusters of axonal regeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clusters-of-axonal-regeneration"
      },
      {
        "slug": "cns-hypomyelination",
        "name": "CNS hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cns-hypomyelination"
      },
      {
        "slug": "decreased-achilles-reflex",
        "name": "Decreased Achilles reflex",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-achilles-reflex"
      },
      {
        "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-distal-sensory-nerve-action-potential",
        "name": "Decreased distal sensory nerve action potential",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-distal-sensory-nerve-action-potential"
      },
      {
        "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": "decreased-nerve-conduction-velocity",
        "name": "Decreased nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity"
      },
      {
        "slug": "decreased-number-of-large-peripheral-myelinated-nerve-fibers",
        "name": "Decreased number of large peripheral myelinated nerve fibers",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-number-of-large-peripheral-myelinated-nerve-fibers"
      },
      {
        "slug": "decreased-number-of-peripheral-myelinated-nerve-fibers",
        "name": "Decreased number of peripheral myelinated nerve fibers",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-number-of-peripheral-myelinated-nerve-fibers"
      },
      {
        "slug": "decreased-number-of-small-peripheral-myelinated-nerve-fibers",
        "name": "Decreased number of small peripheral myelinated nerve fibers",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-number-of-small-peripheral-myelinated-nerve-fibers"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "decreased-sensory-nerve-conduction-velocity",
        "name": "Decreased sensory nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-sensory-nerve-conduction-velocity"
      },
      {
        "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": "demyelinating-peripheral-neuropathy",
        "name": "Demyelinating peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy"
      },
      {
        "slug": "denervation-of-the-diaphragm",
        "name": "Denervation of the diaphragm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/denervation-of-the-diaphragm"
      },
      {
        "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-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-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": "very-frequent",
        "url": "https://dantelabs.com/traits/distal-amyotrophy"
      },
      {
        "slug": "distal-upper-limb-muscle-weakness",
        "name": "Distal upper limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/distal-upper-limb-muscle-weakness"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "emg-neuropathic-changes",
        "name": "EMG: neuropathic changes",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/emg-neuropathic-changes"
      },
      {
        "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": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "foot-dorsiflexor-weakness",
        "name": "Foot drop",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "generalized-neonatal-hypotonia",
        "name": "Generalized low muscle tone in neonate",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-neonatal-hypotonia"
      },
      {
        "slug": "hammertoe",
        "name": "Hammertoe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "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": "frequent",
        "url": "https://dantelabs.com/traits/hand-muscle-weakness"
      },
      {
        "slug": "steppage-gait",
        "name": "High stepping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/steppage-gait"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "hoarse-voice",
        "name": "Hoarse voice",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hoarse-voice"
      },
      {
        "slug": "hypertrophic-nerve-changes",
        "name": "Hypertrophic nerve changes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypertrophic-nerve-changes"
      },
      {
        "slug": "hyporeflexia-of-upper-limbs",
        "name": "Hyporeflexia of upper limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia-of-upper-limbs"
      },
      {
        "slug": "impaired-distal-proprioception",
        "name": "Impaired distal proprioception",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-distal-proprioception"
      },
      {
        "slug": "impaired-distal-vibration-sensation",
        "name": "Impaired distal vibration sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation"
      },
      {
        "slug": "impaired-pain-sensation",
        "name": "Impaired pain sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-pain-sensation"
      },
      {
        "slug": "impaired-tactile-sensation",
        "name": "Impaired touch sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-tactile-sensation"
      },
      {
        "slug": "impaired-vibratory-sensation",
        "name": "Impaired vibratory sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-vibratory-sensation"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "inability-to-walk-by-childhood-adolescence",
        "name": "Inability to walk by childhood/adolescence",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/inability-to-walk-by-childhood-adolescence"
      },
      {
        "slug": "intrinsic-hand-muscle-atrophy",
        "name": "Intrinsic hand muscle atrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrinsic-hand-muscle-atrophy"
      },
      {
        "slug": "joint-contracture-of-the-hand",
        "name": "Joint contracture of the hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-contracture-of-the-hand"
      },
      {
        "slug": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "limb-muscle-weakness",
        "name": "Limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/limb-muscle-weakness"
      },
      {
        "slug": "limited-interphalangeal-movement",
        "name": "Limited movement of hinge joints",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limited-interphalangeal-movement"
      },
      {
        "slug": "limited-wrist-movement",
        "name": "Limited wrist movement",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limited-wrist-movement"
      },
      {
        "slug": "loss-of-ambulation",
        "name": "Loss of ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-ambulation"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "motor-conduction-block",
        "name": "Motor conduction block",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-conduction-block"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "neuropathic-spinal-arthropathy",
        "name": "Neuropathic spinal arthropathy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neuropathic-spinal-arthropathy"
      },
      {
        "slug": "onion-bulb-formation",
        "name": "Onion bulb formation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/onion-bulb-formation"
      },
      {
        "slug": "peripheral-axonal-degeneration",
        "name": "Peripheral axonal degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/peripheral-axonal-degeneration"
      },
      {
        "slug": "peripheral-demyelination",
        "name": "Peripheral demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peripheral-demyelination"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "peroneal-muscle-weakness",
        "name": "Peroneal muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peroneal-muscle-weakness"
      },
      {
        "slug": "poor-fine-motor-coordination",
        "name": "Poor fine motor coordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/poor-fine-motor-coordination"
      },
      {
        "slug": "poor-gross-motor-coordination",
        "name": "Poor gross motor coordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/poor-gross-motor-coordination"
      },
      {
        "slug": "proximal-lower-limb-muscle-weakness",
        "name": "Proximal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-lower-limb-muscle-weakness"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/proximal-upper-limb-muscle-weakness"
      },
      {
        "slug": "quadriceps-muscle-weakness",
        "name": "Quadriceps weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/quadriceps-muscle-weakness"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "segmental-peripheral-demyelination",
        "name": "Segmental peripheral demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/segmental-peripheral-demyelination"
      },
      {
        "slug": "split-hand",
        "name": "Split hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/split-hand"
      },
      {
        "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": "type-1-muscle-fiber-predominance",
        "name": "Type 1 muscle fiber predominance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-1-muscle-fiber-predominance"
      },
      {
        "slug": "ulnar-claw",
        "name": "Ulnar claw",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ulnar-claw"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "shoulder-girdle-muscle-weakness",
        "name": "Weak shoulder muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/shoulder-girdle-muscle-weakness"
      },
      {
        "slug": "weakness-of-facial-musculature",
        "name": "Weakness of facial musculature",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/weakness-of-facial-musculature"
      },
      {
        "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"
      },
      {
        "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"
      }
    ],
    "related": [
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aars1"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aifm1"
      },
      {
        "slug": "atp1a1",
        "symbol": "ATP1A1",
        "name": "ATPase Na+/K+ transporting subunit alpha 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atp1a1"
      },
      {
        "slug": "cadm3",
        "symbol": "CADM3",
        "name": "cell adhesion molecule 3",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cadm3"
      },
      {
        "slug": "cox6a1",
        "symbol": "COX6A1",
        "name": "cytochrome c oxidase subunit 6A1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/cox6a1"
      },
      {
        "slug": "dhtkd1",
        "symbol": "DHTKD1",
        "name": "dehydrogenase E1 and transketolase domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/dhtkd1"
      },
      {
        "slug": "dhx9",
        "symbol": "DHX9",
        "name": "DExH-box helicase 9",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/dhx9"
      },
      {
        "slug": "dnm2",
        "symbol": "DNM2",
        "name": "dynamin 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/dnm2"
      },
      {
        "slug": "drp2",
        "symbol": "DRP2",
        "name": "dystrophin related protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/drp2"
      },
      {
        "slug": "dync1h1",
        "symbol": "DYNC1H1",
        "name": "dynein cytoplasmic 1 heavy chain 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/dync1h1"
      },
      {
        "slug": "egr2",
        "symbol": "EGR2",
        "name": "early growth response 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/egr2"
      },
      {
        "slug": "fbln5",
        "symbol": "FBLN5",
        "name": "fibulin 5",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/fbln5"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}