{
  "url": "https://dantelabs.com/hu/genes/fh",
  "gene": {
    "slug": "fh",
    "symbol": "FH",
    "name": "fumarate hydratase",
    "hgnc": "HGNC:3700",
    "summary": null,
    "location": "1q43",
    "locusType": "gene with protein product",
    "aliases": [
      "FUM"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000091483",
    "entrezId": 2271,
    "omim": [
      "136850"
    ],
    "uniprot": [
      "P07954"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 241497603,
      "end": 241519755,
      "strand": "-",
      "ensemblTranscript": "ENST00000366560.4",
      "refseqTranscript": "NM_000143.4",
      "ensemblProtein": "ENSP00000355518.4",
      "refseqProtein": "NP_000134.2",
      "exons": [
        {
          "start": 241497603,
          "end": 241497970
        },
        {
          "start": 241500437,
          "end": 241500590
        },
        {
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        },
        {
          "start": 241504042,
          "end": 241504245
        },
        {
          "start": 241506003,
          "end": 241506168
        },
        {
          "start": 241508603,
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        },
        {
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        },
        {
          "start": 241513603,
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        {
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          "end": 241517316
        },
        {
          "start": 241519591,
          "end": 241519755
        }
      ],
      "cds": {
        "start": 241497828,
        "end": 241519722
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 241660903,
      "end": 241683061,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 241008679,
      "end": 242008678,
      "genes": [
        {
          "symbol": "RGS7",
          "ensemblId": "ENSG00000182901",
          "biotype": "protein_coding",
          "start": 240767636,
          "end": 241357374,
          "strand": "-",
          "slug": "rgs7"
        },
        {
          "symbol": "KMO",
          "ensemblId": "ENSG00000117009",
          "biotype": "protein_coding",
          "start": 241531876,
          "end": 241595643,
          "strand": "+",
          "slug": "kmo"
        },
        {
          "symbol": "OPN3",
          "ensemblId": "ENSG00000054277",
          "biotype": "protein_coding",
          "start": 241587775,
          "end": 241677376,
          "strand": "-",
          "slug": "opn3"
        },
        {
          "symbol": "CHML",
          "ensemblId": "ENSG00000203668",
          "biotype": "protein_coding",
          "start": 241628851,
          "end": 241640399,
          "strand": "-",
          "slug": "chml"
        },
        {
          "symbol": "WDR64",
          "ensemblId": "ENSG00000162843",
          "biotype": "protein_coding",
          "start": 241652278,
          "end": 241802777,
          "strand": "+",
          "slug": "wdr64"
        },
        {
          "symbol": "EXO1",
          "ensemblId": "ENSG00000174371",
          "biotype": "protein_coding",
          "start": 241847967,
          "end": 241895148,
          "strand": "+",
          "slug": "exo1"
        },
        {
          "symbol": "BECN2",
          "ensemblId": "ENSG00000196289",
          "biotype": "protein_coding",
          "start": 241957767,
          "end": 241959062,
          "strand": "+",
          "slug": "becn2"
        },
        {
          "symbol": "MAP1LC3C",
          "ensemblId": "ENSG00000197769",
          "biotype": "protein_coding",
          "start": 241995188,
          "end": 242001584,
          "strand": "-",
          "slug": "map1lc3c"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-leiomyomatosis-renal-cell-cancer",
        "name": "Hereditary Leiomyomatosis and Renal Cell Cancer",
        "diseases": [
          {
            "mondoId": "MONDO:0007888",
            "name": "Hereditary leiomyomatosis and renal cell cancer (FH tumour predisposition)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "FH variants causing cutaneous and uterine leiomyomas and a risk of type 2 papillary renal cell carcinoma.",
            "management": "Annual kidney MRI, usually from childhood or adolescence, allows early detection and surgery; relatives can be offered testing.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/hereditary-leiomyomatosis-renal-cell-cancer"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-mass",
        "name": "Abdominal mass",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-mass"
      },
      {
        "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-corpus-callosum-morphology",
        "name": "Abnormal corpus callosum morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-corpus-callosum-morphology"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aniridia",
        "name": "Absent iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/aniridia"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "adrenal-pheochromocytoma",
        "name": "Adrenal pheochromocytoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/adrenal-pheochromocytoma"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "arachnoid-hemangiomatosis",
        "name": "Arachnoid hemangiomatosis",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arachnoid-hemangiomatosis"
      },
      {
        "slug": "barrett-esophagus",
        "name": "Barrett esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/barrett-esophagus"
      },
      {
        "slug": "bilateral-fetal-pyelectasis",
        "name": "Bilateral fetal pyelectasis",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-fetal-pyelectasis"
      },
      {
        "slug": "bilateral-polymicrogyria",
        "name": "Bilateral polymicrogyria",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-polymicrogyria"
      },
      {
        "slug": "cerebral-hemorrhage",
        "name": "Bleeding in brain",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-hemorrhage"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "renal-cell-carcinoma",
        "name": "Cancer starting in small tubes in kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-cell-carcinoma"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "cerebral-hypomyelination",
        "name": "Cerebral hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-hypomyelination"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "choroid-plexus-cyst",
        "name": "Choroid plexus cyst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/choroid-plexus-cyst"
      },
      {
        "slug": "cleft-ala-nasi",
        "name": "Cleft nostril",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-ala-nasi"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "cranial-nerve-compression",
        "name": "Cranial nerve compression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cranial-nerve-compression"
      },
      {
        "slug": "cutaneous-leiomyoma",
        "name": "Cutaneous leiomyoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cutaneous-leiomyoma"
      },
      {
        "slug": "cutaneous-leiomyosarcoma",
        "name": "Cutaneous leiomyosarcoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutaneous-leiomyosarcoma"
      },
      {
        "slug": "orthostatic-hypotension",
        "name": "Decrease in blood pressure upon standing up",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/orthostatic-hypotension"
      },
      {
        "slug": "decreased-fumarate-hydratase-activity",
        "name": "Decreased fumarate hydratase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-fumarate-hydratase-activity"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-myelination",
        "name": "Delayed myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-myelination"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "elevated-circulating-calcitonin-concentration",
        "name": "Elevated calcitonin",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-calcitonin-concentration"
      },
      {
        "slug": "elevated-urinary-dopamine-level",
        "name": "Elevated urinary dopamine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-dopamine-level"
      },
      {
        "slug": "elevated-urinary-epinephrine-level",
        "name": "Elevated urinary epinephrine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-epinephrine-level"
      },
      {
        "slug": "elevated-urinary-norepinephrine-level",
        "name": "Elevated urinary norepinephrine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-norepinephrine-level"
      },
      {
        "slug": "elevated-urine-fumaric-acid-level",
        "name": "Elevated urine fumaric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urine-fumaric-acid-level"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "episodic-paroxysmal-anxiety",
        "name": "Episodic paroxysmal anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-paroxysmal-anxiety"
      },
      {
        "slug": "esophageal-neoplasm",
        "name": "Esophageal tumor",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-neoplasm"
      },
      {
        "slug": "extraadrenal-pheochromocytoma",
        "name": "Extraadrenal pheochromocytoma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/extraadrenal-pheochromocytoma"
      },
      {
        "slug": "syncope",
        "name": "Fainting spell",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "lissencephaly",
        "name": "Fewer or absent grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lissencephaly"
      },
      {
        "slug": "flushing",
        "name": "Flushing",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flushing"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "glomerular-sclerosis",
        "name": "Glomerular sclerosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glomerular-sclerosis"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "hyperbilirubinemia",
        "name": "High blood bilirubin levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperbilirubinemia"
      },
      {
        "slug": "hypercalcemia",
        "name": "High blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypercalcemia"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hyperglycemia",
        "name": "High blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperglycemia"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "hypertension-associated-with-pheochromocytoma",
        "name": "Hypertension associated with pheochromocytoma",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertension-associated-with-pheochromocytoma"
      },
      {
        "slug": "hypertensive-crisis",
        "name": "Hypertensive crisis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertensive-crisis"
      },
      {
        "slug": "hypertensive-retinopathy",
        "name": "Hypertensive retinopathy",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertensive-retinopathy"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "intrahepatic-cholestasis",
        "name": "Impaired release of bile from liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intrahepatic-cholestasis"
      },
      {
        "slug": "vocal-cord-paralysis",
        "name": "Inability to move vocal cords",
        "systems": [
          "abnormality-of-the-nervous-system",
          "abnormality-of-the-voice"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vocal-cord-paralysis"
      },
      {
        "slug": "dysphonia",
        "name": "Inability to produce voice sounds",
        "systems": [
          "abnormality-of-the-voice"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysphonia"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "polycythemia",
        "name": "Increased red blood cells",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polycythemia"
      },
      {
        "slug": "increased-urine-alpha-ketoglutarate-concentration",
        "name": "Increased urine alpha-ketoglutarate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-urine-alpha-ketoglutarate-concentration"
      },
      {
        "slug": "increased-urine-succinate-level",
        "name": "Increased urine succinate level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-urine-succinate-level"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "myocarditis",
        "name": "Inflammation of heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myocarditis"
      },
      {
        "slug": "episodic-abdominal-pain",
        "name": "Intermittent abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-abdominal-pain"
      },
      {
        "slug": "profound-intellectual-disability",
        "name": "IQ less than 20",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/profound-intellectual-disability"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "mitochondrial-swelling",
        "name": "Mitochondrial swelling",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/mitochondrial-swelling"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "multiple-cutaneous-leiomyomas",
        "name": "Multiple cutaneous leiomyomas",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multiple-cutaneous-leiomyomas"
      },
      {
        "slug": "abnormality-of-the-musculature",
        "name": "Muscular abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculature"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "necrotizing-enterocolitis",
        "name": "Necrotizing enterocolitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/necrotizing-enterocolitis"
      },
      {
        "slug": "open-operculum",
        "name": "Open operculum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/open-operculum"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "palpitations",
        "name": "Palpitations",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/palpitations"
      },
      {
        "slug": "panic-attack",
        "name": "Panic attack",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/panic-attack"
      },
      {
        "slug": "papillary-renal-cell-carcinoma-type-2",
        "name": "Papillary renal cell carcinoma type 2",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/papillary-renal-cell-carcinoma-type-2"
      },
      {
        "slug": "paraganglioma",
        "name": "Paraganglioma",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/paraganglioma"
      },
      {
        "slug": "paraganglioma-of-head-and-neck",
        "name": "Paraganglioma of head and neck",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paraganglioma-of-head-and-neck"
      },
      {
        "slug": "paroxysmal-vertigo",
        "name": "Paroxysmal vertigo",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/paroxysmal-vertigo"
      },
      {
        "slug": "perimembranous-ventricular-septal-defect",
        "name": "Perimembranous ventricular septal defect",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/perimembranous-ventricular-septal-defect"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      },
      {
        "slug": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "positive-regitine-blocking-test",
        "name": "Positive regitine blocking test",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/positive-regitine-blocking-test"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "pulsatile-tinnitus",
        "name": "Pulsatile tinnitus",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulsatile-tinnitus"
      },
      {
        "slug": "recurrent-paroxysmal-headache",
        "name": "Recurrent paroxysmal headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-paroxysmal-headache"
      },
      {
        "slug": "reduced-subcutaneous-adipose-tissue",
        "name": "Reduced fat tissue below the skin",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/reduced-subcutaneous-adipose-tissue"
      },
      {
        "slug": "relative-macrocephaly",
        "name": "Relatively large head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/relative-macrocephaly"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "status-epilepticus",
        "name": "Repeated seizures without recovery between them",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/status-epilepticus"
      },
      {
        "slug": "retinal-capillary-hemangioma",
        "name": "Retinal capillary hemangioma",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinal-capillary-hemangioma"
      },
      {
        "slug": "sinus-tachycardia",
        "name": "Sinus tachycardia",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sinus-tachycardia"
      },
      {
        "slug": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "episodic-hyperhidrosis",
        "name": "Sporadic excessive sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-hyperhidrosis"
      },
      {
        "slug": "tented-upper-lip-vermilion",
        "name": "Tented mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "uterine-leiomyoma",
        "name": "Uterine leiomyoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/uterine-leiomyoma"
      },
      {
        "slug": "uterine-leiomyosarcoma",
        "name": "Uterine leiomyosarcoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/uterine-leiomyosarcoma"
      },
      {
        "slug": "vaginal-neoplasm",
        "name": "Vaginal tumor",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vaginal-neoplasm"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "conjunctival-icterus",
        "name": "Yellowing of the whites of the eyes",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/conjunctival-icterus"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}