{
  "url": "https://dantelabs.com/hu/genes/pex14",
  "gene": {
    "slug": "pex14",
    "symbol": "PEX14",
    "name": "peroxisomal biogenesis factor 14",
    "hgnc": "HGNC:8856",
    "summary": null,
    "location": "1p36.22",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [],
    "ensemblId": "ENSG00000142655",
    "entrezId": 5195,
    "omim": [
      "601791"
    ],
    "uniprot": [
      "O75381"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 10474950,
      "end": 10630758,
      "strand": "+",
      "ensemblTranscript": "ENST00000356607.9",
      "refseqTranscript": "NM_004565.3",
      "ensemblProtein": "ENSP00000349016.4",
      "refseqProtein": "NP_004556.1",
      "exons": [
        {
          "start": 10474950,
          "end": 10475002
        },
        {
          "start": 10495274,
          "end": 10495321
        },
        {
          "start": 10536213,
          "end": 10536297
        },
        {
          "start": 10599238,
          "end": 10599366
        },
        {
          "start": 10618332,
          "end": 10618417
        },
        {
          "start": 10623019,
          "end": 10623121
        },
        {
          "start": 10624340,
          "end": 10624437
        },
        {
          "start": 10627272,
          "end": 10627363
        },
        {
          "start": 10629531,
          "end": 10630758
        }
      ],
      "cds": {
        "start": 10474967,
        "end": 10629987
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 10532345,
      "end": 10690815,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 10052854,
      "end": 11052853,
      "genes": [
        {
          "symbol": "UBE4B",
          "ensemblId": "ENSG00000130939",
          "biotype": "protein_coding",
          "start": 10032832,
          "end": 10181244,
          "strand": "+",
          "slug": "ube4b"
        },
        {
          "symbol": "KIF1B",
          "ensemblId": "ENSG00000054523",
          "biotype": "protein_coding",
          "start": 10210481,
          "end": 10381606,
          "strand": "+",
          "slug": "kif1b"
        },
        {
          "symbol": "PGD",
          "ensemblId": "ENSG00000142657",
          "biotype": "protein_coding",
          "start": 10398592,
          "end": 10420511,
          "strand": "+",
          "slug": "pgd"
        },
        {
          "symbol": "CENPS-CORT",
          "ensemblId": "ENSG00000251503",
          "biotype": "protein_coding",
          "start": 10430102,
          "end": 10452153,
          "strand": "+",
          "slug": "cenps-cort"
        },
        {
          "symbol": "CENPS",
          "ensemblId": "ENSG00000175279",
          "biotype": "protein_coding",
          "start": 10430390,
          "end": 10442813,
          "strand": "+",
          "slug": "cenps"
        },
        {
          "symbol": "CORT",
          "ensemblId": "ENSG00000241563",
          "biotype": "protein_coding",
          "start": 10450010,
          "end": 10452083,
          "strand": "+",
          "slug": "cort"
        },
        {
          "symbol": "DFFA",
          "ensemblId": "ENSG00000160049",
          "biotype": "protein_coding",
          "start": 10456522,
          "end": 10472582,
          "strand": "-",
          "slug": "dffa"
        },
        {
          "symbol": "CASZ1",
          "ensemblId": "ENSG00000130940",
          "biotype": "protein_coding",
          "start": 10636601,
          "end": 10796658,
          "strand": "-",
          "slug": "casz1"
        },
        {
          "symbol": "CIROZ",
          "ensemblId": "ENSG00000175262",
          "biotype": "protein_coding",
          "start": 10946471,
          "end": 10982076,
          "strand": "-",
          "slug": "ciroz"
        },
        {
          "symbol": "TARDBP",
          "ensemblId": "ENSG00000120948",
          "biotype": "protein_coding",
          "start": 11012344,
          "end": 11037991,
          "strand": "+",
          "slug": "tardbp"
        },
        {
          "symbol": "MASP2",
          "ensemblId": "ENSG00000009724",
          "biotype": "protein_coding",
          "start": 11022009,
          "end": 11047273,
          "strand": "-",
          "slug": "masp2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "zellweger-spectrum-and-peroxisome-biogenesis-disorders",
        "name": "Zellweger Spectrum & Peroxisome Biogenesis Disorders",
        "diseases": [
          {
            "mondoId": "MONDO:0019234",
            "name": "Peroxisome biogenesis disorders (Zellweger spectrum and rhizomelic chondrodysplasia punctata)",
            "genes": 14,
            "inheritance": "autosomal-recessive",
            "description": "Changes in any of more than a dozen PEX genes, most often PEX1, affect the brain, liver, kidneys, bones, eyes and hearing, with severity ranging from life-limiting disease in infancy to milder vision, hearing and learning problems.",
            "management": "Diagnosis guides monitoring of liver, adrenal, vision and hearing function, supplementation where appropriate, and carrier testing for relatives.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/zellweger-spectrum-and-peroxisome-biogenesis-disorders"
      },
      {
        "slug": "leukodystrophy",
        "name": "Other Inherited Leukodystrophies",
        "diseases": [
          {
            "mondoId": "MONDO:0019046",
            "name": "Leukodystrophy (other and unspecified types)",
            "genes": 80,
            "inheritance": null,
            "description": "Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.",
            "management": "Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/leukodystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-chorioretinal-morphology",
        "name": "Abnormal chorioretinal morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-chorioretinal-morphology"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormal-epiphysis-morphology",
        "name": "Abnormal shape of end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology"
      },
      {
        "slug": "skeletal-dysplasia",
        "name": "Abnormal skeletal development",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-dysplasia"
      },
      {
        "slug": "abnormality-of-coagulation",
        "name": "Abnormality of coagulation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-coagulation"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "abnormality-of-neuronal-migration",
        "name": "Abnormality of neuronal migration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration"
      },
      {
        "slug": "abnormality-of-the-face",
        "name": "Abnormality of the face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-face"
      },
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "slug": "abnormal-palate-morphology",
        "name": "Abnormality of the palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-palate-morphology"
      },
      {
        "slug": "abnormality-of-the-tongue",
        "name": "Abnormality of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-tongue"
      },
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "bilateral-single-transverse-palmar-creases",
        "name": "Bilateral single transverse palmar creases",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-single-transverse-palmar-creases"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "conjugated-hyperbilirubinemia",
        "name": "Conjugated hyperbilirubinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "delayed-closure-of-the-anterior-fontanelle",
        "name": "Delayed closure of the soft spot on the skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-closure-of-the-anterior-fontanelle"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-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": "obligate",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-phytanic-acid-concentration",
        "name": "Elevated levels of phytanic acid",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-phytanic-acid-concentration"
      },
      {
        "slug": "elevated-urinary-dicarboxylic-acid-level",
        "name": "Elevated urinary dicarboxylic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urinary-dicarboxylic-acid-level"
      },
      {
        "slug": "clitoral-hypertrophy",
        "name": "Enlarged clitoris",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/clitoral-hypertrophy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "flat-occiput",
        "name": "Flat back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flat-occiput"
      },
      {
        "slug": "flat-face",
        "name": "Flat face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/flat-face"
      },
      {
        "slug": "underdeveloped-supraorbital-ridges",
        "name": "Flattened bony protrusion above eyes",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/underdeveloped-supraorbital-ridges"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "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": "increased-circulating-very-long-chain-fatty-acid-concentration",
        "name": "Increased circulating very long-chain fatty acid concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-very-long-chain-fatty-acid-concentration"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "jaundice",
        "name": "Jaundice",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/jaundice"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "multicystic-kidney-dysplasia",
        "name": "Multicystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "posterior-embryotoxon",
        "name": "Posterior embryotoxon",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/posterior-embryotoxon"
      },
      {
        "slug": "premature-birth",
        "name": "Premature birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/premature-birth"
      },
      {
        "slug": "primary-adrenal-insufficiency",
        "name": "Primary adrenal insufficiency",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/primary-adrenal-insufficiency"
      },
      {
        "slug": "profound-global-developmental-delay",
        "name": "Profound global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/profound-global-developmental-delay"
      },
      {
        "slug": "progressive-muscle-weakness",
        "name": "Progressive muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-muscle-weakness"
      },
      {
        "slug": "pyloric-stenosis",
        "name": "Pyloric stenosis",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pyloric-stenosis"
      },
      {
        "slug": "reduced-number-of-intrahepatic-bile-ducts",
        "name": "Reduced number of intrahepatic bile ducts",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-number-of-intrahepatic-bile-ducts"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "severe-muscular-hypotonia",
        "name": "Severely decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-muscular-hypotonia"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "epiphyseal-stippling",
        "name": "Speckled calcifications in end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/epiphyseal-stippling"
      },
      {
        "slug": "brushfield-spots",
        "name": "Speckled iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brushfield-spots"
      },
      {
        "slug": "thickened-nuchal-skin-fold",
        "name": "Thickened skin folds of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thickened-nuchal-skin-fold"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "upslanted-palpebral-fissure",
        "name": "Upward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure"
      },
      {
        "slug": "very-long-chain-fatty-acid-accumulation",
        "name": "Very long chain fatty acid accumulation",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/very-long-chain-fatty-acid-accumulation"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "large-fontanelles",
        "name": "Wide fontanelles",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/large-fontanelles"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "wide-anterior-fontanel",
        "name": "Wider-than-typical soft spot of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wide-anterior-fontanel"
      }
    ],
    "related": [
      {
        "slug": "pex1",
        "symbol": "PEX1",
        "name": "peroxisomal biogenesis factor 1",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pex1"
      },
      {
        "slug": "pex10",
        "symbol": "PEX10",
        "name": "peroxisomal biogenesis factor 10",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pex10"
      },
      {
        "slug": "pex11b",
        "symbol": "PEX11B",
        "name": "peroxisomal biogenesis factor 11 beta",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pex11b"
      },
      {
        "slug": "pex12",
        "symbol": "PEX12",
        "name": "peroxisomal biogenesis factor 12",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pex12"
      },
      {
        "slug": "pex13",
        "symbol": "PEX13",
        "name": "peroxisomal biogenesis factor 13",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pex13"
      },
      {
        "slug": "pex16",
        "symbol": "PEX16",
        "name": "peroxisomal biogenesis factor 16",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pex16"
      },
      {
        "slug": "pex19",
        "symbol": "PEX19",
        "name": "peroxisomal biogenesis factor 19",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pex19"
      },
      {
        "slug": "pex2",
        "symbol": "PEX2",
        "name": "peroxisomal biogenesis factor 2",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pex2"
      },
      {
        "slug": "pex26",
        "symbol": "PEX26",
        "name": "peroxisomal biogenesis factor 26",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pex26"
      },
      {
        "slug": "pex3",
        "symbol": "PEX3",
        "name": "peroxisomal biogenesis factor 3",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pex3"
      },
      {
        "slug": "pex5",
        "symbol": "PEX5",
        "name": "peroxisomal biogenesis factor 5",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pex5"
      },
      {
        "slug": "pex6",
        "symbol": "PEX6",
        "name": "peroxisomal biogenesis factor 6",
        "shared": 2,
        "url": "https://dantelabs.com/hu/genes/pex6"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}