{
  "url": "https://dantelabs.com/no/genes/dpagt1",
  "gene": {
    "slug": "dpagt1",
    "symbol": "DPAGT1",
    "name": "dolichyl-phosphate N-acetylglucosaminephosphotransferase 1",
    "hgnc": "HGNC:2995",
    "summary": null,
    "location": "11q23.3",
    "locusType": "gene with protein product",
    "aliases": [
      "GPT",
      "D11S366",
      "DGPT",
      "ALG7",
      "CDG-Ij"
    ],
    "previousSymbols": [
      "DPAGT2",
      "DPAGT"
    ],
    "ensemblId": "ENSG00000172269",
    "entrezId": 1798,
    "omim": [
      "191350"
    ],
    "uniprot": [
      "Q9H3H5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 119096510,
      "end": 119101853,
      "strand": "-",
      "ensemblTranscript": "ENST00000354202.9",
      "refseqTranscript": "NM_001382.4",
      "ensemblProtein": "ENSP00000346142.4",
      "refseqProtein": "NP_001373.2",
      "exons": [
        {
          "start": 119096510,
          "end": 119097063
        },
        {
          "start": 119097142,
          "end": 119097297
        },
        {
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          "end": 119098487
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        },
        {
          "start": 119101018,
          "end": 119101138
        },
        {
          "start": 119101495,
          "end": 119101853
        }
      ],
      "cds": {
        "start": 119096998,
        "end": 119101655
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 118967213,
      "end": 118979041,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 118599182,
      "end": 119599181,
      "genes": [
        {
          "symbol": "ARCN1",
          "ensemblId": "ENSG00000095139",
          "biotype": "protein_coding",
          "start": 118572384,
          "end": 118603033,
          "strand": "+",
          "slug": "arcn1"
        },
        {
          "symbol": "PHLDB1",
          "ensemblId": "ENSG00000019144",
          "biotype": "protein_coding",
          "start": 118606396,
          "end": 118658038,
          "strand": "+",
          "slug": "phldb1"
        },
        {
          "symbol": "TREH",
          "ensemblId": "ENSG00000118094",
          "biotype": "protein_coding",
          "start": 118657265,
          "end": 118679694,
          "strand": "-",
          "slug": "treh"
        },
        {
          "symbol": "DDX6",
          "ensemblId": "ENSG00000110367",
          "biotype": "protein_coding",
          "start": 118747763,
          "end": 118791226,
          "strand": "-",
          "slug": "ddx6"
        },
        {
          "symbol": "CXCR5",
          "ensemblId": "ENSG00000160683",
          "biotype": "protein_coding",
          "start": 118883868,
          "end": 118897787,
          "strand": "+",
          "slug": "cxcr5"
        },
        {
          "symbol": "BCL9L",
          "ensemblId": "ENSG00000186174",
          "biotype": "protein_coding",
          "start": 118893875,
          "end": 118925926,
          "strand": "-",
          "slug": "bcl9l"
        },
        {
          "symbol": "UPK2",
          "ensemblId": "ENSG00000110375",
          "biotype": "protein_coding",
          "start": 118925164,
          "end": 118958559,
          "strand": "+",
          "slug": "upk2"
        },
        {
          "symbol": "FOXR1",
          "ensemblId": "ENSG00000176302",
          "biotype": "protein_coding",
          "start": 118971623,
          "end": 118981287,
          "strand": "+",
          "slug": "foxr1"
        },
        {
          "symbol": "CENATAC",
          "ensemblId": "ENSG00000186166",
          "biotype": "protein_coding",
          "start": 118998051,
          "end": 119015811,
          "strand": "+",
          "slug": "cenatac"
        },
        {
          "symbol": "RPS25",
          "ensemblId": "ENSG00000118181",
          "biotype": "protein_coding",
          "start": 119014665,
          "end": 119018724,
          "strand": "-",
          "slug": "rps25"
        },
        {
          "symbol": "TRAPPC4",
          "ensemblId": "ENSG00000196655",
          "biotype": "protein_coding",
          "start": 119018733,
          "end": 119025454,
          "strand": "+",
          "slug": "trappc4"
        },
        {
          "symbol": "SLC37A4",
          "ensemblId": "ENSG00000137700",
          "biotype": "protein_coding",
          "start": 119023751,
          "end": 119030906,
          "strand": "-",
          "slug": "slc37a4"
        },
        {
          "symbol": "HYOU1",
          "ensemblId": "ENSG00000149428",
          "biotype": "protein_coding",
          "start": 119044185,
          "end": 119057252,
          "strand": "-",
          "slug": "hyou1"
        },
        {
          "symbol": "VPS11",
          "ensemblId": "ENSG00000160695",
          "biotype": "protein_coding",
          "start": 119067789,
          "end": 119082753,
          "strand": "+",
          "slug": "vps11"
        },
        {
          "symbol": "HMBS",
          "ensemblId": "ENSG00000256269",
          "biotype": "protein_coding",
          "start": 119084861,
          "end": 119093920,
          "strand": "+",
          "slug": "hmbs"
        },
        {
          "symbol": "H2AX",
          "ensemblId": "ENSG00000188486",
          "biotype": "protein_coding",
          "start": 119093874,
          "end": 119095465,
          "strand": "-",
          "slug": "h2ax"
        },
        {
          "symbol": "C2CD2L",
          "ensemblId": "ENSG00000172375",
          "biotype": "protein_coding",
          "start": 119102198,
          "end": 119118544,
          "strand": "+",
          "slug": "c2cd2l"
        },
        {
          "symbol": "HINFP",
          "ensemblId": "ENSG00000172273",
          "biotype": "protein_coding",
          "start": 119121509,
          "end": 119136059,
          "strand": "+",
          "slug": "hinfp"
        },
        {
          "symbol": "ABCG4",
          "ensemblId": "ENSG00000172350",
          "biotype": "protein_coding",
          "start": 119149029,
          "end": 119162653,
          "strand": "+",
          "slug": "abcg4"
        },
        {
          "symbol": "NLRX1",
          "ensemblId": "ENSG00000160703",
          "biotype": "protein_coding",
          "start": 119166481,
          "end": 119184017,
          "strand": "+",
          "slug": "nlrx1"
        },
        {
          "symbol": "NHERF4",
          "ensemblId": "ENSG00000172367",
          "biotype": "protein_coding",
          "start": 119185457,
          "end": 119190227,
          "strand": "+",
          "slug": "nherf4"
        },
        {
          "symbol": "DRC12",
          "ensemblId": "ENSG00000248712",
          "biotype": "protein_coding",
          "start": 119190055,
          "end": 119206266,
          "strand": "-",
          "slug": "drc12"
        },
        {
          "symbol": "CBL",
          "ensemblId": "ENSG00000110395",
          "biotype": "protein_coding",
          "start": 119206036,
          "end": 119313926,
          "strand": "+",
          "slug": "cbl"
        },
        {
          "symbol": "MCAM",
          "ensemblId": "ENSG00000076706",
          "biotype": "protein_coding",
          "start": 119307972,
          "end": 119321521,
          "strand": "-",
          "slug": "mcam"
        },
        {
          "symbol": "RNF26",
          "ensemblId": "ENSG00000173456",
          "biotype": "protein_coding",
          "start": 119334527,
          "end": 119337309,
          "strand": "+",
          "slug": "rnf26"
        },
        {
          "symbol": "C1QTNF5",
          "ensemblId": "ENSG00000223953",
          "biotype": "protein_coding",
          "start": 119338942,
          "end": 119340940,
          "strand": "-",
          "slug": "c1qtnf5"
        },
        {
          "symbol": "MFRP",
          "ensemblId": "ENSG00000235718",
          "biotype": "protein_coding",
          "start": 119338942,
          "end": 119346705,
          "strand": "-",
          "slug": "mfrp"
        },
        {
          "symbol": "USP2",
          "ensemblId": "ENSG00000036672",
          "biotype": "protein_coding",
          "start": 119355215,
          "end": 119381720,
          "strand": "-",
          "slug": "usp2"
        },
        {
          "symbol": "THY1",
          "ensemblId": "ENSG00000154096",
          "biotype": "protein_coding",
          "start": 119415476,
          "end": 119424985,
          "strand": "-",
          "slug": "thy1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-myasthenic-syndrome",
        "name": "Kongenitt myasthent syndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0018940",
            "name": "Medfødt myasteniskt syndrom (alle typer)",
            "genes": 27,
            "inheritance": null,
            "description": "Samlebegrep som dekker alle medfødte myasteniske syndromer, inkludert de vanlige formene med CHRNE, RAPSN, DOK7 og MUSK.",
            "management": "Mange former reagerer på spesifikke legemidler, som pyridostigmin, salbutamol eller efedrin, og riktig valg avhenger av hvilket gen som er involvert.",
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/congenital-myasthenic-syndrome"
      },
      {
        "slug": "disorder-of-glycosylation",
        "name": "Medfødte glykosyleringsforstyrrelser",
        "diseases": [
          {
            "mondoId": "MONDO:0011964",
            "name": "DPAGT1-CDG",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "En medfødt glykosyleringsforstyrrelse forårsaket av varianter i DPAGT1, fra alvorlig sykdom i flere organsystemer til et medfødt myasteniasyndrom med svakhet i extremitetsbeltene.",
            "management": "Den myasteniske formen kan reagere på legemidler som brukes ved medfødte myasteniasyndromer.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0015286",
            "name": "Medfødte glykosyleringsforstyrrelser (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "En stor gruppe arvelige tilstander der sukkerkjeder (glykaner) ikke blir riktig bygget opp eller festet til proteiner og lipider, og som ofte rammer hjernen, leveren, blodkoagulasjonen, veksten og mange andre organsystemer. De fleste er autosomalt recessive, men noen er X-bundne eller autosomalt dominante.",
            "management": null,
            "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/no/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-peripheral-nervous-system-synaptic-transmission",
        "name": "Abnormal peripheral nervous system synaptic transmission",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-peripheral-nervous-system-synaptic-transmission"
      },
      {
        "slug": "abnormal-cerebellum-morphology",
        "name": "Abnormality of the cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "akinesia",
        "name": "Akinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/akinesia"
      },
      {
        "slug": "anasarca",
        "name": "Anasarca",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anasarca"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autism",
        "name": "Autism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autism"
      },
      {
        "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": "intracranial-hemorrhage",
        "name": "Bleeding within the skull",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intracranial-hemorrhage"
      },
      {
        "slug": "brain-imaging-abnormality",
        "name": "Brain imaging abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brain-imaging-abnormality"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "developmental-cataract",
        "name": "Clouding of the lens of the eye at birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-cataract"
      },
      {
        "slug": "cns-hypomyelination",
        "name": "CNS hypomyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cns-hypomyelination"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "floppy-infant",
        "name": "Decreased muscle tone in infant",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/floppy-infant"
      },
      {
        "slug": "hypoproteinemia",
        "name": "Decreased protein levels in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoproteinemia"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "difficulty-running",
        "name": "Difficulty running",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/difficulty-running"
      },
      {
        "slug": "difficulty-climbing-stairs",
        "name": "Difficulty walking up stairs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/difficulty-climbing-stairs"
      },
      {
        "slug": "diffuse-optic-disc-pallor",
        "name": "Diffuse optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diffuse-optic-disc-pallor"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "pes-planus",
        "name": "Dropped arches",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pes-planus"
      },
      {
        "slug": "eeg-with-generalized-slow-activity",
        "name": "EEG with generalized slow activity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/eeg-with-generalized-slow-activity"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation",
        "name": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation"
      },
      {
        "slug": "emotional-dearth",
        "name": "Emotional poverty",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/emotional-dearth"
      },
      {
        "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": "epileptic-encephalopathy",
        "name": "Epileptic encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epileptic-encephalopathy"
      },
      {
        "slug": "epileptic-spasm",
        "name": "Epileptic spasm",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epileptic-spasm"
      },
      {
        "slug": "hypertrichosis",
        "name": "Excessive hair growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertrichosis"
      },
      {
        "slug": "lumbar-hyperlordosis",
        "name": "Excessive inward curvature of lower spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lumbar-hyperlordosis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigable-weakness",
        "name": "Fatigable weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigable-weakness"
      },
      {
        "slug": "favorable-response-of-weakness-to-acetylcholine-esterase-inhibitors",
        "name": "Favorable response of weakness to acetylcholine esterase inhibitors",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/favorable-response-of-weakness-to-acetylcholine-esterase-inhibitors"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "fetal-akinesia-sequence",
        "name": "Fetal akinesia sequence",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/fetal-akinesia-sequence"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "focal-motor-seizure",
        "name": "Focal motor seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-motor-seizure"
      },
      {
        "slug": "frequent-falls",
        "name": "Frequent falls",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frequent-falls"
      },
      {
        "slug": "global-brain-atrophy",
        "name": "Generalized brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-brain-atrophy"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "slug": "generalized-weakness-of-limb-muscles",
        "name": "Generalized weakness of limb muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-weakness-of-limb-muscles"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gowers-sign",
        "name": "Gowers sign",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gowers-sign"
      },
      {
        "slug": "head-banging",
        "name": "Head-banging",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/head-banging"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "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": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "hypsarrhythmia",
        "name": "Hypsarrhythmia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypsarrhythmia"
      },
      {
        "slug": "lipodystrophy",
        "name": "Inability to make and keep healthy fat tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lipodystrophy"
      },
      {
        "slug": "knee-flexion-contracture",
        "name": "Inability to straighten knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/knee-flexion-contracture"
      },
      {
        "slug": "inability-to-walk",
        "name": "Inability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/inability-to-walk"
      },
      {
        "slug": "increased-jitter-at-single-fiber-emg",
        "name": "Increased jitter at single fiber EMG",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-jitter-at-single-fiber-emg"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "inverted-nipples",
        "name": "Inverted nipples",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inverted-nipples"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "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": "decreased-fetal-movement",
        "name": "Less than 10 fetal movements in 12 hours",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/decreased-fetal-movement"
      },
      {
        "slug": "limb-girdle-muscle-weakness",
        "name": "Limb-girdle muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/limb-girdle-muscle-weakness"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "muscle-fiber-tubular-inclusions",
        "name": "Muscle fiber tubular inclusions",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-fiber-tubular-inclusions"
      },
      {
        "slug": "muscle-spasm",
        "name": "Muscle spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-spasm"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "ocular-melanocytosis",
        "name": "Ocular melanocytosis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ocular-melanocytosis"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "exotropia",
        "name": "Outward facing eye ball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/exotropia"
      },
      {
        "slug": "camptodactyly",
        "name": "Permanent flexion of the finger or toe",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/camptodactyly"
      },
      {
        "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": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "prolonged-qt-interval",
        "name": "Prolonged QT interval",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/prolonged-qt-interval"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "ragged-red-muscle-fibers",
        "name": "Ragged-red muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ragged-red-muscle-fibers"
      },
      {
        "slug": "reduced-antithrombin-iii-activity",
        "name": "Reduced antithrombin III activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-antithrombin-iii-activity"
      },
      {
        "slug": "reduced-protein-s-activity",
        "name": "Reduced protein S activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-protein-s-activity"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "rod-cone-dystrophy",
        "name": "Rod-cone dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rod-cone-dystrophy"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "single-transverse-palmar-crease",
        "name": "Single transverse palmar crease",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/single-transverse-palmar-crease"
      },
      {
        "slug": "skin-dimple",
        "name": "Skin dimple",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skin-dimple"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "stereotypical-body-rocking",
        "name": "Stereotypical body rocking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/stereotypical-body-rocking"
      },
      {
        "slug": "stroke-like-episode",
        "name": "Stroke-like episode",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/stroke-like-episode"
      },
      {
        "slug": "thickened-skin",
        "name": "Thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thickened-skin"
      },
      {
        "slug": "easy-fatigability",
        "name": "Tired easily",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/easy-fatigability"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "type-1-muscle-fiber-predominance",
        "name": "Type 1 muscle fiber predominance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/type-1-muscle-fiber-predominance"
      },
      {
        "slug": "type-i-transferrin-isoform-profile",
        "name": "Type I transferrin isoform profile",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/type-i-transferrin-isoform-profile"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/waddling-gait"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      },
      {
        "slug": "scapular-winging",
        "name": "Winged shoulder blade",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scapular-winging"
      }
    ],
    "related": [
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/alg2"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "name": "GDP-mannose pyrophosphorylase B",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/gmppb"
      },
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/a4galt"
      },
      {
        "slug": "agrn",
        "symbol": "AGRN",
        "name": "agrin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/agrn"
      },
      {
        "slug": "alg1",
        "symbol": "ALG1",
        "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg1"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg11"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg12"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg13"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg3"
      },
      {
        "slug": "alg6",
        "symbol": "ALG6",
        "name": "ALG6 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg6"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/alg8"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}