{
  "url": "https://dantelabs.com/da/genes/hmgcl",
  "gene": {
    "slug": "hmgcl",
    "symbol": "HMGCL",
    "name": "3-hydroxy-3-methylglutaryl-CoA lyase",
    "hgnc": "HGNC:5005",
    "summary": null,
    "location": "1p36.11",
    "locusType": "gene with protein product",
    "aliases": [
      "HL",
      "HMGCL1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000117305",
    "entrezId": 3155,
    "omim": [
      "613898"
    ],
    "uniprot": [
      "P35914"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 23801885,
      "end": 23825429,
      "strand": "-",
      "ensemblTranscript": "ENST00000374490.8",
      "refseqTranscript": "NM_000191.3",
      "ensemblProtein": "ENSP00000363614.3",
      "refseqProtein": "NP_000182.2",
      "exons": [
        {
          "start": 23801885,
          "end": 23802564
        },
        {
          "start": 23804400,
          "end": 23804525
        },
        {
          "start": 23808135,
          "end": 23808323
        },
        {
          "start": 23810736,
          "end": 23810799
        },
        {
          "start": 23814190,
          "end": 23814338
        },
        {
          "start": 23816675,
          "end": 23816770
        },
        {
          "start": 23817476,
          "end": 23817583
        },
        {
          "start": 23820510,
          "end": 23820593
        },
        {
          "start": 23825356,
          "end": 23825429
        }
      ],
      "cds": {
        "start": 23802463,
        "end": 23825415
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 24128375,
      "end": 24165110,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 23313657,
      "end": 24313656,
      "genes": [
        {
          "symbol": "HNRNPR",
          "ensemblId": "ENSG00000125944",
          "biotype": "protein_coding",
          "start": 23303771,
          "end": 23344658,
          "strand": "-",
          "slug": "hnrnpr"
        },
        {
          "symbol": "ZNF436",
          "ensemblId": "ENSG00000125945",
          "biotype": "protein_coding",
          "start": 23359448,
          "end": 23369960,
          "strand": "-",
          "slug": "znf436"
        },
        {
          "symbol": "TCEA3",
          "ensemblId": "ENSG00000204219",
          "biotype": "protein_coding",
          "start": 23370591,
          "end": 23425169,
          "strand": "-",
          "slug": "tcea3"
        },
        {
          "symbol": "ASAP3",
          "ensemblId": "ENSG00000088280",
          "biotype": "protein_coding",
          "start": 23428560,
          "end": 23484637,
          "strand": "-",
          "slug": "asap3"
        },
        {
          "symbol": "E2F2",
          "ensemblId": "ENSG00000007968",
          "biotype": "protein_coding",
          "start": 23506423,
          "end": 23531241,
          "strand": "-",
          "slug": "e2f2"
        },
        {
          "symbol": "ID3",
          "ensemblId": "ENSG00000117318",
          "biotype": "protein_coding",
          "start": 23557440,
          "end": 23560586,
          "strand": "-",
          "slug": "id3"
        },
        {
          "symbol": "RPL11",
          "ensemblId": "ENSG00000142676",
          "biotype": "protein_coding",
          "start": 23691685,
          "end": 23698426,
          "strand": "+",
          "slug": "rpl11"
        },
        {
          "symbol": "ELOA",
          "ensemblId": "ENSG00000011007",
          "biotype": "protein_coding",
          "start": 23743153,
          "end": 23762059,
          "strand": "+",
          "slug": "eloa"
        },
        {
          "symbol": "PITHD1",
          "ensemblId": "ENSG00000057757",
          "biotype": "protein_coding",
          "start": 23778365,
          "end": 23788232,
          "strand": "+",
          "slug": "pithd1"
        },
        {
          "symbol": "LYPLA2",
          "ensemblId": "ENSG00000011009",
          "biotype": "protein_coding",
          "start": 23791110,
          "end": 23795545,
          "strand": "+",
          "slug": "lypla2"
        },
        {
          "symbol": "GALE",
          "ensemblId": "ENSG00000117308",
          "biotype": "protein_coding",
          "start": 23795599,
          "end": 23800804,
          "strand": "-",
          "slug": "gale"
        },
        {
          "symbol": "FUCA1",
          "ensemblId": "ENSG00000179163",
          "biotype": "protein_coding",
          "start": 23845077,
          "end": 23868361,
          "strand": "-",
          "slug": "fuca1"
        },
        {
          "symbol": "CNR2",
          "ensemblId": "ENSG00000188822",
          "biotype": "protein_coding",
          "start": 23870515,
          "end": 23913396,
          "strand": "-",
          "slug": "cnr2"
        },
        {
          "symbol": "PNRC2",
          "ensemblId": "ENSG00000189266",
          "biotype": "protein_coding",
          "start": 23956839,
          "end": 23963776,
          "strand": "+",
          "slug": "pnrc2"
        },
        {
          "symbol": "SRSF10",
          "ensemblId": "ENSG00000188529",
          "biotype": "protein_coding",
          "start": 23962474,
          "end": 23980927,
          "strand": "-",
          "slug": "srsf10"
        },
        {
          "symbol": "MYOM3",
          "ensemblId": "ENSG00000142661",
          "biotype": "protein_coding",
          "start": 24054822,
          "end": 24112190,
          "strand": "-",
          "slug": "myom3"
        },
        {
          "symbol": "IL22RA1",
          "ensemblId": "ENSG00000142677",
          "biotype": "protein_coding",
          "start": 24119769,
          "end": 24143301,
          "strand": "-",
          "slug": "il22ra1"
        },
        {
          "symbol": "IFNLR1",
          "ensemblId": "ENSG00000185436",
          "biotype": "protein_coding",
          "start": 24154168,
          "end": 24187959,
          "strand": "-",
          "slug": "ifnlr1"
        },
        {
          "symbol": "GRHL3",
          "ensemblId": "ENSG00000158055",
          "biotype": "protein_coding",
          "start": 24199558,
          "end": 24364482,
          "strand": "+",
          "slug": "grhl3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "classic-organic-acidurias",
        "name": "Klassiske organiske acidurier",
        "diseases": [
          {
            "mondoId": "MONDO:0009520",
            "name": "3-Hydroxy-3-methylglutaryl-CoA-lyasemangel",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Forårsaget af varianter i HMGCL, som kan give episoder med lavt blodsukker uden ketoner og metabolisk acidose, især under faste.",
            "management": "Viden gør det muligt at undgå faste, følge en kost med lavt proteinindhold og lavt fedtindhold og have en plan for akut behandling.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "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/da/conditions/classic-organic-acidurias"
      },
      {
        "slug": "fatty-acid-oxidation-and-carnitine-cycle-disorders",
        "name": "Fedtsyreoxidations- og carnitinkredsløbsforstyrrelser",
        "diseases": [
          {
            "mondoId": "MONDO:0017713",
            "name": "Forstyrrelser i fedtsyreoxidation og ketogenese",
            "genes": 13,
            "inheritance": "autosomal-recessive",
            "description": "En gruppe af enzym- og transportdefekter, herunder MCAD-, VLCAD-, LCHAD-, SCAD- og HADH-mangel, primær carnitinmangel og carnitin-acylcarnitin-translokasemangel, som kan forårsage lavt blodsukker, muskelnedbrydning samt hjerte- og leverproblemer i perioder med faste eller sygdom.",
            "management": "Viden gør det muligt at undgå længerevarende faste, at have en nødplan ved sygdom og, hvor det er relevant, at justere carnitin- eller kostfedtindtaget, hvilket kan forebygge livstruende episoder.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "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/da/conditions/fatty-acid-oxidation-and-carnitine-cycle-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "3-methylglutaric-aciduria",
        "name": "3-Methylglutaric aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/3-methylglutaric-aciduria"
      },
      {
        "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": "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": "acute-pancreatitis",
        "name": "Acute pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/acute-pancreatitis"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "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": "very-rare",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "decreased-circulating-carnitine-concentration",
        "name": "Carnitine deficiency",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-carnitine-concentration"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "hypoglycemic-coma",
        "name": "Coma caused by low blood sugar",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypoglycemic-coma"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "decreased-prothrombin-time",
        "name": "Decreased prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-prothrombin-time"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "drowsiness",
        "name": "Drowsiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/drowsiness"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "elevated-serum-anion-gap",
        "name": "Elevated serum anion gap",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-serum-anion-gap"
      },
      {
        "slug": "elevated-urinary-3-methylcrotonylglycine-level",
        "name": "Elevated urinary 3-methylcrotonylglycine level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/elevated-urinary-3-methylcrotonylglycine-level"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "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-vomiting",
        "name": "Episodic vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/episodic-vomiting"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "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": "glutaric-aciduria",
        "name": "Glutaric aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/glutaric-aciduria"
      },
      {
        "slug": "cardiac-arrest",
        "name": "Heart stops beating",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cardiac-arrest"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "hyperuricemia",
        "name": "High blood uric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperuricemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hypothermia",
        "name": "Hypothermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hypothermia"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "increased-level-of-3-hydroxy-3-methylglutaric-acid-in-urine",
        "name": "Increased level of 3-hydroxy-3-methylglutaric acid in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-3-hydroxy-3-methylglutaric-acid-in-urine"
      },
      {
        "slug": "increased-level-of-hippuric-acid-in-urine",
        "name": "Increased level of hippuric acid in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/increased-level-of-hippuric-acid-in-urine"
      },
      {
        "slug": "thrombocytosis",
        "name": "Increased number of platelets in blood",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytosis"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "ketonuria",
        "name": "Ketonuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ketonuria"
      },
      {
        "slug": "apathy",
        "name": "Lack of feeling, emotion, interest",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/apathy"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "lipid-accumulation-in-hepatocytes",
        "name": "Lipid accumulation in hepatocytes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lipid-accumulation-in-hepatocytes"
      },
      {
        "slug": "hypotension",
        "name": "Low blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotension"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "nonketotic-hypoglycemia",
        "name": "Nonketotic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nonketotic-hypoglycemia"
      },
      {
        "slug": "organic-aciduria",
        "name": "Organic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/organic-aciduria"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "prolonged-prothrombin-time",
        "name": "Prolonged prothrombin time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prolonged-prothrombin-time"
      },
      {
        "slug": "recurrent-hypoglycemia",
        "name": "Recurrent low blood sugar levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-hypoglycemia"
      },
      {
        "slug": "reduced-hmg-coa-lyase-activity-in-cultured-fibroblasts",
        "name": "Reduced HMG-CoA lyase activity in cultured fibroblasts",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-hmg-coa-lyase-activity-in-cultured-fibroblasts"
      },
      {
        "slug": "reye-syndrome-like-episodes",
        "name": "Reye syndrome-like episodes",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reye-syndrome-like-episodes"
      },
      {
        "slug": "spastic-hemiparesis",
        "name": "Spastic hemiparesis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/spastic-hemiparesis"
      },
      {
        "slug": "dilated-cardiomyopathy",
        "name": "Stretched and thinned heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dilated-cardiomyopathy"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "acad9",
        "symbol": "ACAD9",
        "name": "acyl-CoA dehydrogenase family member 9",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/acad9"
      },
      {
        "slug": "acadm",
        "symbol": "ACADM",
        "name": "acyl-CoA dehydrogenase medium chain",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/acadm"
      },
      {
        "slug": "acads",
        "symbol": "ACADS",
        "name": "acyl-CoA dehydrogenase short chain",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/acads"
      },
      {
        "slug": "acadvl",
        "symbol": "ACADVL",
        "name": "acyl-CoA dehydrogenase very long chain",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/acadvl"
      },
      {
        "slug": "etfa",
        "symbol": "ETFA",
        "name": "electron transfer flavoprotein subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/etfa"
      },
      {
        "slug": "etfb",
        "symbol": "ETFB",
        "name": "electron transfer flavoprotein subunit beta",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/etfb"
      },
      {
        "slug": "etfdh",
        "symbol": "ETFDH",
        "name": "electron transfer flavoprotein dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/etfdh"
      },
      {
        "slug": "hadh",
        "symbol": "HADH",
        "name": "hydroxyacyl-CoA dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/hadh"
      },
      {
        "slug": "hadha",
        "symbol": "HADHA",
        "name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/hadha"
      },
      {
        "slug": "hmgcs2",
        "symbol": "HMGCS2",
        "name": "3-hydroxy-3-methylglutaryl-CoA synthase 2",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/hmgcs2"
      },
      {
        "slug": "slc22a5",
        "symbol": "SLC22A5",
        "name": "solute carrier family 22 member 5",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/slc22a5"
      },
      {
        "slug": "slc25a20",
        "symbol": "SLC25A20",
        "name": "solute carrier family 25 member 20",
        "shared": 1,
        "url": "https://dantelabs.com/da/genes/slc25a20"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}