{
  "url": "https://dantelabs.com/hu/genes/arsa",
  "gene": {
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    "symbol": "ARSA",
    "name": "arylsulfatase A",
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      "P15289"
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    },
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      "build": "GRCh37",
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      "strand": "-"
    },
    "neighbourhood": {
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      "genes": [
        {
          "symbol": "MOV10L1",
          "ensemblId": "ENSG00000073146",
          "biotype": "protein_coding",
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          "end": 50161690,
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        {
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        {
          "symbol": "TRABD",
          "ensemblId": "ENSG00000170638",
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          "end": 50199600,
          "strand": "+",
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        {
          "symbol": "SELENOO",
          "ensemblId": "ENSG00000073169",
          "biotype": "protein_coding",
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          "strand": "+",
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        {
          "symbol": "TUBGCP6",
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        {
          "symbol": "HDAC10",
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        {
          "symbol": "MAPK12",
          "ensemblId": "ENSG00000188130",
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        {
          "symbol": "MAPK11",
          "ensemblId": "ENSG00000185386",
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        {
          "symbol": "PLXNB2",
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        {
          "symbol": "DENND6B",
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        {
          "symbol": "PPP6R2",
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        {
          "symbol": "SBF1",
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          "strand": "-",
          "slug": "sbf1"
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        {
          "symbol": "ADM2",
          "ensemblId": "ENSG00000128165",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "adm2"
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        {
          "symbol": "MIOX",
          "ensemblId": "ENSG00000100253",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "miox"
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        {
          "symbol": "LMF2",
          "ensemblId": "ENSG00000100258",
          "biotype": "protein_coding",
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          "end": 50507751,
          "strand": "-",
          "slug": "lmf2"
        },
        {
          "symbol": "NCAPH2",
          "ensemblId": "ENSG00000025770",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "ncaph2"
        },
        {
          "symbol": "SCO2",
          "ensemblId": "ENSG00000284194",
          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "TYMP",
          "ensemblId": "ENSG00000025708",
          "biotype": "protein_coding",
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          "end": 50530326,
          "strand": "-",
          "slug": "tymp"
        },
        {
          "symbol": "CIMAP1B",
          "ensemblId": "ENSG00000177989",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "cimap1b"
        },
        {
          "symbol": "KLHDC7B",
          "ensemblId": "ENSG00000130487",
          "biotype": "protein_coding",
          "start": 50545899,
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          "strand": "+",
          "slug": "klhdc7b"
        },
        {
          "symbol": "SYCE3",
          "ensemblId": "ENSG00000217442",
          "biotype": "protein_coding",
          "start": 50551109,
          "end": 50562954,
          "strand": "-",
          "slug": "syce3"
        },
        {
          "symbol": "CPT1B",
          "ensemblId": "ENSG00000205560",
          "biotype": "protein_coding",
          "start": 50567624,
          "end": 50578681,
          "strand": "-",
          "slug": "cpt1b"
        },
        {
          "symbol": "CHKB-CPT1B",
          "ensemblId": "ENSG00000254413",
          "biotype": "protein_coding",
          "start": 50568869,
          "end": 50582965,
          "strand": "-",
          "slug": "chkb-cpt1b"
        },
        {
          "symbol": "CHKB",
          "ensemblId": "ENSG00000100288",
          "biotype": "protein_coding",
          "start": 50578959,
          "end": 50601455,
          "strand": "-",
          "slug": "chkb"
        },
        {
          "symbol": "MAPK8IP2",
          "ensemblId": "ENSG00000008735",
          "biotype": "protein_coding",
          "start": 50600659,
          "end": 50613981,
          "strand": "+",
          "slug": "mapk8ip2"
        },
        {
          "symbol": "SHANK3",
          "ensemblId": "ENSG00000251322",
          "biotype": "protein_coding",
          "start": 50674408,
          "end": 50733212,
          "strand": "+",
          "slug": "shank3"
        },
        {
          "symbol": "ACR",
          "ensemblId": "ENSG00000100312",
          "biotype": "protein_coding",
          "start": 50738196,
          "end": 50745441,
          "strand": "+",
          "slug": "acr"
        },
        {
          "symbol": "RABL2B",
          "ensemblId": "ENSG00000079974",
          "biotype": "protein_coding",
          "start": 50767491,
          "end": 50783760,
          "strand": "-",
          "slug": "rabl2b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "metachromatic-leukodystrophy",
        "name": "Metachromatic Leukodystrophy",
        "diseases": [
          {
            "mondoId": "MONDO:0018868",
            "name": "Metachromatic leukodystrophy (ARSA and saposin B deficiency)",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "Loss of arylsulfatase A activity, or of its activator saposin B, causes progressive loss of motor and cognitive skills, with late infantile, juvenile and adult onset forms.",
            "management": "Gene therapy (atidarsagene autotemcel) or stem cell transplantation can help when given before or very early in the course of the disease, so early diagnosis matters.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/metachromatic-leukodystrophy"
      },
      {
        "slug": "leukodystrophy",
        "name": "Other Inherited Leukodystrophies",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leukodystrophy (other and unspecified types)",
            "genes": 80,
            "inheritance": null,
            "description": "Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.",
            "management": "Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/leukodystrophy"
      },
      {
        "slug": "lysosomal-storage-disease",
        "name": "Lysosomal Storage Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0002561",
            "name": "Lysosomal storage disease (other and unspecified types)",
            "genes": 59,
            "inheritance": null,
            "description": "Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/lysosomal-storage-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-distention",
        "name": "Abdominal bloating",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-distention"
      },
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-glycosphingolipid-metabolism",
        "name": "Abnormal glycosphingolipid metabolism",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-glycosphingolipid-metabolism"
      },
      {
        "slug": "abnormal-social-behavior",
        "name": "Abnormal social behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-social-behavior"
      },
      {
        "slug": "abnormality-of-visual-evoked-potentials",
        "name": "Abnormality of visual evoked potentials",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-visual-evoked-potentials"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "bilateral-sensorineural-hearing-impairment",
        "name": "Bilateral sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment"
      },
      {
        "slug": "bulbar-palsy",
        "name": "Bulbar palsy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/bulbar-palsy"
      },
      {
        "slug": "bulbar-signs",
        "name": "Bulbar signs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bulbar-signs"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "clumsiness",
        "name": "Clumsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clumsiness"
      },
      {
        "slug": "decerebrate-rigidity",
        "name": "Decerebrate rigidity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/decerebrate-rigidity"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "decreased-nerve-conduction-velocity",
        "name": "Decreased nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "delusion",
        "name": "Delusions",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delusion"
      },
      {
        "slug": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "depression",
        "name": "Depression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depression"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "emg-chronic-denervation-signs",
        "name": "EMG: chronic denervation signs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emg-chronic-denervation-signs"
      },
      {
        "slug": "emg-neuropathic-changes",
        "name": "EMG: neuropathic changes",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/emg-neuropathic-changes"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "gallbladder-dysfunction",
        "name": "Gallbladder dysfunction",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/gallbladder-dysfunction"
      },
      {
        "slug": "cholecystitis",
        "name": "Gallbladder inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cholecystitis"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "impaired-cerebroside-sulfate-hydrolysis",
        "name": "Impaired cerebroside sulfate hydrolysis",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/impaired-cerebroside-sulfate-hydrolysis"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "increased-csf-protein-concentration",
        "name": "Increased CSF protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-csf-protein-concentration"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "intention-tremor",
        "name": "Intention tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intention-tremor"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "slug": "urinary-incontinence",
        "name": "Loss of bladder control",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "constitutional-symptom"
        ],
        "frequency": "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": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "loss-of-speech",
        "name": "Loss of speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/loss-of-speech"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "memory-impairment",
        "name": "Memory impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/memory-impairment"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "neoplasm-of-the-gallbladder",
        "name": "Neoplasm of the gallbladder",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-gallbladder"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "orthostatic-hypotension-due-to-autonomic-dysfunction",
        "name": "Orthostatic hypotension due to autonomic dysfunction",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/orthostatic-hypotension-due-to-autonomic-dysfunction"
      },
      {
        "slug": "tetraplegia",
        "name": "Paralysis of all four limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tetraplegia"
      },
      {
        "slug": "peripheral-demyelination",
        "name": "Peripheral demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/peripheral-demyelination"
      },
      {
        "slug": "progressive-gait-ataxia",
        "name": "Progressive gait ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-gait-ataxia"
      },
      {
        "slug": "progressive-peripheral-neuropathy",
        "name": "Progressive peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-peripheral-neuropathy"
      },
      {
        "slug": "progressive-psychomotor-deterioration",
        "name": "Progressive psychomotor deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-psychomotor-deterioration"
      },
      {
        "slug": "progressive-spastic-quadriplegia",
        "name": "Progressive spastic quadriplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-spastic-quadriplegia"
      },
      {
        "slug": "punctate-periventricular-t2-hyperintense-foci",
        "name": "Punctate periventricular T2 hyperintense foci",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/punctate-periventricular-t2-hyperintense-foci"
      },
      {
        "slug": "reduced-leukocyte-arylsulfatase-a-activity",
        "name": "Reduced leukocyte arylsulfatase A activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/reduced-leukocyte-arylsulfatase-a-activity"
      },
      {
        "slug": "schizophrenia",
        "name": "Schizophrenia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/schizophrenia"
      },
      {
        "slug": "short-attention-span",
        "name": "Short attention span",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-attention-span"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "tip-toe-gait",
        "name": "Toe walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tip-toe-gait"
      },
      {
        "slug": "vegetative-state",
        "name": "Vegetative state",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/vegetative-state"
      }
    ],
    "related": [
      {
        "slug": "psap",
        "symbol": "PSAP",
        "name": "prosaposin",
        "shared": 3,
        "url": "https://dantelabs.com/hu/genes/psap"
      },
      {
        "slug": "cyp27a1",
        "symbol": "CYP27A1",
        "name": "cytochrome P450 family 27 subfamily A member 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/cyp27a1"
      },
      {
        "slug": "galc",
        "symbol": "GALC",
        "name": "galactosylceramidase",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/galc"
      },
      {
        "slug": "aars1",
        "symbol": "AARS1",
        "name": "alanyl-tRNA synthetase 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aars1"
      },
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aars2"
      },
      {
        "slug": "abcd1",
        "symbol": "ABCD1",
        "name": "ATP binding cassette subfamily D member 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/abcd1"
      },
      {
        "slug": "abhd5",
        "symbol": "ABHD5",
        "name": "abhydrolase domain containing 5, lysophosphatidic acid acyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/abhd5"
      },
      {
        "slug": "acer3",
        "symbol": "ACER3",
        "name": "alkaline ceramidase 3",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/acer3"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/adar"
      },
      {
        "slug": "aga",
        "symbol": "AGA",
        "name": "aspartylglucosaminidase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aga"
      },
      {
        "slug": "aimp1",
        "symbol": "AIMP1",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aimp1"
      },
      {
        "slug": "aimp2",
        "symbol": "AIMP2",
        "name": "aminoacyl tRNA synthetase complex interacting multifunctional protein 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/aimp2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}