{
  "url": "https://dantelabs.com/el/genes/mthfr",
  "gene": {
    "slug": "mthfr",
    "symbol": "MTHFR",
    "name": "methylenetetrahydrofolate reductase",
    "hgnc": "HGNC:7436",
    "summary": null,
    "location": "1p36.22",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000177000",
    "entrezId": 4524,
    "omim": [
      "607093"
    ],
    "uniprot": [
      "P42898"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 11785723,
      "end": 11805964,
      "strand": "-",
      "ensemblTranscript": "ENST00000376590.9",
      "refseqTranscript": "NM_005957.5",
      "ensemblProtein": "ENSP00000365775.3",
      "refseqProtein": "NP_005948.3",
      "exons": [
        {
          "start": 11785723,
          "end": 11790898
        },
        {
          "start": 11791207,
          "end": 11791326
        },
        {
          "start": 11792278,
          "end": 11792379
        },
        {
          "start": 11793907,
          "end": 11794089
        },
        {
          "start": 11794358,
          "end": 11794538
        },
        {
          "start": 11794729,
          "end": 11794863
        },
        {
          "start": 11795098,
          "end": 11795348
        },
        {
          "start": 11796206,
          "end": 11796399
        },
        {
          "start": 11800212,
          "end": 11800322
        },
        {
          "start": 11801161,
          "end": 11801399
        },
        {
          "start": 11802881,
          "end": 11803129
        },
        {
          "start": 11805888,
          "end": 11805964
        }
      ],
      "cds": {
        "start": 11790680,
        "end": 11803116
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 11845780,
      "end": 11866977,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 11295844,
      "end": 12295843,
      "genes": [
        {
          "symbol": "UBIAD1",
          "ensemblId": "ENSG00000120942",
          "biotype": "protein_coding",
          "start": 11273189,
          "end": 11297104,
          "strand": "+",
          "slug": "ubiad1"
        },
        {
          "symbol": "DISP3",
          "ensemblId": "ENSG00000204624",
          "biotype": "protein_coding",
          "start": 11478905,
          "end": 11537583,
          "strand": "+",
          "slug": "disp3"
        },
        {
          "symbol": "FBXO2",
          "ensemblId": "ENSG00000116661",
          "biotype": "protein_coding",
          "start": 11637018,
          "end": 11655785,
          "strand": "-",
          "slug": "fbxo2"
        },
        {
          "symbol": "FBXO44",
          "ensemblId": "ENSG00000132879",
          "biotype": "protein_coding",
          "start": 11650618,
          "end": 11663327,
          "strand": "+",
          "slug": "fbxo44"
        },
        {
          "symbol": "MAD2L2",
          "ensemblId": "ENSG00000116670",
          "biotype": "protein_coding",
          "start": 11657230,
          "end": 11692605,
          "strand": "-",
          "slug": "mad2l2"
        },
        {
          "symbol": "FBXO6",
          "ensemblId": "ENSG00000116663",
          "biotype": "protein_coding",
          "start": 11664141,
          "end": 11674354,
          "strand": "+",
          "slug": "fbxo6"
        },
        {
          "symbol": "DRAXIN",
          "ensemblId": "ENSG00000162490",
          "biotype": "protein_coding",
          "start": 11690958,
          "end": 11725857,
          "strand": "+",
          "slug": "draxin"
        },
        {
          "symbol": "AGTRAP",
          "ensemblId": "ENSG00000177674",
          "biotype": "protein_coding",
          "start": 11736070,
          "end": 11754802,
          "strand": "+",
          "slug": "agtrap"
        },
        {
          "symbol": "C1orf167",
          "ensemblId": "ENSG00000215910",
          "biotype": "protein_coding",
          "start": 11761787,
          "end": 11789585,
          "strand": "+",
          "slug": "c1orf167"
        },
        {
          "symbol": "CLCN6",
          "ensemblId": "ENSG00000011021",
          "biotype": "protein_coding",
          "start": 11806096,
          "end": 11848080,
          "strand": "+",
          "slug": "clcn6"
        },
        {
          "symbol": "NPPA",
          "ensemblId": "ENSG00000175206",
          "biotype": "protein_coding",
          "start": 11845701,
          "end": 11848345,
          "strand": "-",
          "slug": "nppa"
        },
        {
          "symbol": "NPPB",
          "ensemblId": "ENSG00000120937",
          "biotype": "protein_coding",
          "start": 11857454,
          "end": 11859648,
          "strand": "-",
          "slug": "nppb"
        },
        {
          "symbol": "KIAA2013",
          "ensemblId": "ENSG00000116685",
          "biotype": "protein_coding",
          "start": 11919590,
          "end": 11926428,
          "strand": "-",
          "slug": "kiaa2013"
        },
        {
          "symbol": "PLOD1",
          "ensemblId": "ENSG00000083444",
          "biotype": "protein_coding",
          "start": 11934205,
          "end": 11975542,
          "strand": "+",
          "slug": "plod1"
        },
        {
          "symbol": "MFN2",
          "ensemblId": "ENSG00000116688",
          "biotype": "protein_coding",
          "start": 11980181,
          "end": 12015211,
          "strand": "+",
          "slug": "mfn2"
        },
        {
          "symbol": "MIIP",
          "ensemblId": "ENSG00000116691",
          "biotype": "protein_coding",
          "start": 12019466,
          "end": 12032048,
          "strand": "+",
          "slug": "miip"
        },
        {
          "symbol": "TNFRSF8",
          "ensemblId": "ENSG00000120949",
          "biotype": "protein_coding",
          "start": 12063079,
          "end": 12144221,
          "strand": "+",
          "slug": "tnfrsf8"
        },
        {
          "symbol": "TNFRSF1B",
          "ensemblId": "ENSG00000028137",
          "biotype": "protein_coding",
          "start": 12166970,
          "end": 12209228,
          "strand": "+",
          "slug": "tnfrsf1b"
        },
        {
          "symbol": "VPS13D",
          "ensemblId": "ENSG00000048707",
          "biotype": "protein_coding",
          "start": 12230007,
          "end": 12512047,
          "strand": "+",
          "slug": "vps13d"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "homocystinuria-and-cobalamin-disorders",
        "name": "Ομοκυστεϊνουρία και διαταραχές κοβαλαμίνης",
        "diseases": [
          {
            "mondoId": "MONDO:0004737",
            "name": "Ομοκυστεϊνουρία",
            "genes": 10,
            "inheritance": "autosomal-recessive",
            "description": "Περιλαμβάνει την κλασική ομοκυστεϊνουρία λόγω ανεπάρκειας CBS, τη σοβαρή ανεπάρκεια MTHFR και τις συνδυασμένες διαταραχές κοβαλαμίνης και επαναμεθυλίωσης, που μπορούν να προκαλέσουν εξαρθρημα του φακού, θρομβώσεις, σκελετικές αλλοιώσεις, αναιμία και αναπτυξιακά προβλήματα.",
            "management": "Η γνώση επιτρέπει τη θεραπεία με βιταμίνη B6, B12, φολικό οξύ, βεταΐνη και διατροφή, ανάλογα με την περίπτωση, η οποία μπορεί να προλάβει το εξάρθρημα του φακού, τη θρόμβωση και άλλες επιπλοκές.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/homocystinuria-and-cobalamin-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [
      {
        "slug": "nutrigenetics",
        "traits": [
          {
            "key": "folate-homocysteine",
            "title": "Φολικό οξύ και ομοκυστεΐνη"
          }
        ],
        "name": "Nutrigenetik",
        "url": "https://dantelabs.com/el/whole-genome-sequencing/nutrigenetics"
      }
    ],
    "phenotypes": [
      {
        "slug": "abnormal-thrombosis",
        "name": "Abnormal blood clot",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-thrombosis"
      },
      {
        "slug": "abnormal-cerebral-white-matter-morphology",
        "name": "Abnormal cerebral white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology"
      },
      {
        "slug": "abnormal-circulating-enzyme-concentration-or-activity",
        "name": "Abnormal circulating enzyme concentration or activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-periventricular-white-matter-morphology",
        "name": "Abnormal periventricular white matter morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-periventricular-white-matter-morphology"
      },
      {
        "slug": "abnormal-brain-morphology",
        "name": "Abnormal shape of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-brain-morphology"
      },
      {
        "slug": "abnormal-calvaria-morphology",
        "name": "Abnormality of cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-calvaria-morphology"
      },
      {
        "slug": "abnormal-facial-skeleton-morphology",
        "name": "Abnormality of facial bones",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-facial-skeleton-morphology"
      },
      {
        "slug": "abnormality-of-the-eye",
        "name": "Abnormality of the eye",
        "systems": [],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormality-of-the-eye"
      },
      {
        "slug": "abnormal-skull-morphology",
        "name": "Abnormality of the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-skull-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-cerebellum",
        "name": "Absent/small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellum"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "deep-venous-thrombosis",
        "name": "Blood clot in a deep vein",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/deep-venous-thrombosis"
      },
      {
        "slug": "pulmonary-embolism",
        "name": "Blood clot in artery of lung",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pulmonary-embolism"
      },
      {
        "slug": "cerebral-venous-thrombosis",
        "name": "Blood clot in cerebral vein",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/cerebral-venous-thrombosis"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "brain-imaging-abnormality",
        "name": "Brain imaging abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/brain-imaging-abnormality"
      },
      {
        "slug": "generalized-non-motor-absence-seizure",
        "name": "Brief seizures with staring spells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "cleft-lip",
        "name": "Cleft lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-lip"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "congenital-diaphragmatic-hernia",
        "name": "Congenital diaphragmatic hernia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-diaphragmatic-hernia"
      },
      {
        "slug": "hypomethioninemia",
        "name": "Decreased plasma methionine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypomethioninemia"
      },
      {
        "slug": "hypoplasia-of-the-frontal-bone",
        "name": "Decreased size of bone of forehead",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-frontal-bone"
      },
      {
        "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": "delusion",
        "name": "Delusions",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delusion"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "hyperhomocystinemia",
        "name": "Elevated blood homocystine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperhomocystinemia"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "thymus-hyperplasia",
        "name": "Enlarged thymus",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thymus-hyperplasia"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "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": "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": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "cystathioninemia",
        "name": "High blood cystathionine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cystathioninemia"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "homocystinuria",
        "name": "High urine homocystine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/homocystinuria"
      },
      {
        "slug": "holoprosencephaly",
        "name": "Holoprosencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/holoprosencephaly"
      },
      {
        "slug": "incoordination",
        "name": "Incoordination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/incoordination"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "lower-limb-muscle-weakness",
        "name": "Lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-muscle-weakness"
      },
      {
        "slug": "lower-limb-spasticity",
        "name": "Lower limb spasticity",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lower-limb-spasticity"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "morphological-central-nervous-system-abnormality",
        "name": "Morphological central nervous system abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/morphological-central-nervous-system-abnormality"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "negativism",
        "name": "Negativism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/negativism"
      },
      {
        "slug": "omphalocele",
        "name": "Omphalocele",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/omphalocele"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "paresthesia",
        "name": "Pins and needles feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/paresthesia"
      },
      {
        "slug": "posterior-pituitary-agenesis",
        "name": "Posterior pituitary agenesis",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/posterior-pituitary-agenesis"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "psychosis",
        "name": "Psychosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/psychosis"
      },
      {
        "slug": "psychotic-episodes",
        "name": "Psychotic episodes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/psychotic-episodes"
      },
      {
        "slug": "psychotic-mentation",
        "name": "Psychotic mentation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/psychotic-mentation"
      },
      {
        "slug": "recurrent-thrombophlebitis",
        "name": "Recurrent thrombophlebitis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/recurrent-thrombophlebitis"
      },
      {
        "slug": "schizophrenia",
        "name": "Schizophrenia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/schizophrenia"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "adrenal-hypoplasia",
        "name": "Small adrenal glands",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/adrenal-hypoplasia"
      },
      {
        "slug": "social-and-occupational-deterioration",
        "name": "Social and occupational deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/social-and-occupational-deterioration"
      },
      {
        "slug": "spastic-paraparesis",
        "name": "Spastic paraparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-paraparesis"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "spinal-dysraphism",
        "name": "Spinal dysraphism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spinal-dysraphism"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "thromboembolic-stroke",
        "name": "Thromboembolic stroke",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thromboembolic-stroke"
      },
      {
        "slug": "thromboembolism",
        "name": "Thromboembolism",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/thromboembolism"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "anterior-pituitary-hypoplasia",
        "name": "Underdeveloped pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anterior-pituitary-hypoplasia"
      },
      {
        "slug": "upper-motor-neuron-dysfunction",
        "name": "Upper motor neuron dysfunction",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/upper-motor-neuron-dysfunction"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "hemiparesis",
        "name": "Weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemiparesis"
      }
    ],
    "related": [
      {
        "slug": "abcd4",
        "symbol": "ABCD4",
        "name": "ATP binding cassette subfamily D member 4",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/abcd4"
      },
      {
        "slug": "cbs",
        "symbol": "CBS",
        "name": "cystathionine beta-synthase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cbs"
      },
      {
        "slug": "hcfc1",
        "symbol": "HCFC1",
        "name": "host cell factor C1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/hcfc1"
      },
      {
        "slug": "lmbrd1",
        "symbol": "LMBRD1",
        "name": "LMBR1 domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/lmbrd1"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "name": "metabolism of cobalamin associated C",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mmachc"
      },
      {
        "slug": "mmadhc",
        "symbol": "MMADHC",
        "name": "metabolism of cobalamin associated D",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mmadhc"
      },
      {
        "slug": "mtr",
        "symbol": "MTR",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mtr"
      },
      {
        "slug": "mtrr",
        "symbol": "MTRR",
        "name": "5-methyltetrahydrofolate-homocysteine methyltransferase reductase",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/mtrr"
      },
      {
        "slug": "prdx1",
        "symbol": "PRDX1",
        "name": "peroxiredoxin 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/prdx1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-e609d43e",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}