{
  "url": "https://dantelabs.com/no/genes/aifm1",
  "gene": {
    "slug": "aifm1",
    "symbol": "AIFM1",
    "name": "apoptosis inducing factor mitochondria associated 1",
    "hgnc": "HGNC:8768",
    "summary": null,
    "location": "Xq26.1",
    "locusType": "gene with protein product",
    "aliases": [
      "AIF",
      "CMTX4",
      "DFNX5"
    ],
    "previousSymbols": [
      "PDCD8",
      "NAMSD",
      "AUNX1"
    ],
    "ensemblId": "ENSG00000156709",
    "entrezId": 9131,
    "omim": [
      "300169"
    ],
    "uniprot": [
      "O95831"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 130129362,
      "end": 130165841,
      "strand": "-",
      "ensemblTranscript": "ENST00000287295.8",
      "refseqTranscript": "NM_004208.4",
      "ensemblProtein": "ENSP00000287295.3",
      "refseqProtein": "NP_004199.1",
      "exons": [
        {
          "start": 130129362,
          "end": 130129628
        },
        {
          "start": 130129970,
          "end": 130130166
        },
        {
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        },
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        },
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        },
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        },
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        },
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        },
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        },
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        },
        {
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        },
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        },
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        },
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          "start": 130156461,
          "end": 130156603
        },
        {
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          "end": 130165841
        }
      ],
      "cds": {
        "start": 130129557,
        "end": 130165656
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 129263337,
      "end": 129299861,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 129647602,
      "end": 130647601,
      "genes": [
        {
          "symbol": "APLN",
          "ensemblId": "ENSG00000171388",
          "biotype": "protein_coding",
          "start": 129645259,
          "end": 129654965,
          "strand": "-",
          "slug": "apln"
        },
        {
          "symbol": "XPNPEP2",
          "ensemblId": "ENSG00000122121",
          "biotype": "protein_coding",
          "start": 129738949,
          "end": 129770164,
          "strand": "+",
          "slug": "xpnpep2"
        },
        {
          "symbol": "SASH3",
          "ensemblId": "ENSG00000122122",
          "biotype": "protein_coding",
          "start": 129779901,
          "end": 129795201,
          "strand": "+",
          "slug": "sash3"
        },
        {
          "symbol": "ZDHHC9",
          "ensemblId": "ENSG00000188706",
          "biotype": "protein_coding",
          "start": 129797030,
          "end": 129844215,
          "strand": "-",
          "slug": "zdhhc9"
        },
        {
          "symbol": "UTP14A",
          "ensemblId": "ENSG00000156697",
          "biotype": "protein_coding",
          "start": 129906114,
          "end": 129929957,
          "strand": "+",
          "slug": "utp14a"
        },
        {
          "symbol": "BCORL1",
          "ensemblId": "ENSG00000085185",
          "biotype": "protein_coding",
          "start": 129981107,
          "end": 130058071,
          "strand": "+",
          "slug": "bcorl1"
        },
        {
          "symbol": "ELF4",
          "ensemblId": "ENSG00000102034",
          "biotype": "protein_coding",
          "start": 130063955,
          "end": 130110951,
          "strand": "-",
          "slug": "elf4"
        },
        {
          "symbol": "RAB33A",
          "ensemblId": "ENSG00000134594",
          "biotype": "protein_coding",
          "start": 130171720,
          "end": 130184874,
          "strand": "+",
          "slug": "rab33a"
        },
        {
          "symbol": "ZNF280C",
          "ensemblId": "ENSG00000056277",
          "biotype": "protein_coding",
          "start": 130202699,
          "end": 130268923,
          "strand": "-",
          "slug": "znf280c"
        },
        {
          "symbol": "SLC25A14",
          "ensemblId": "ENSG00000102078",
          "biotype": "protein_coding",
          "start": 130339886,
          "end": 130373453,
          "strand": "+",
          "slug": "slc25a14"
        },
        {
          "symbol": "GPR119",
          "ensemblId": "ENSG00000147262",
          "biotype": "protein_coding",
          "start": 130379449,
          "end": 130385674,
          "strand": "-",
          "slug": "gpr119"
        },
        {
          "symbol": "RBMX2",
          "ensemblId": "ENSG00000134597",
          "biotype": "protein_coding",
          "start": 130401922,
          "end": 130462404,
          "strand": "+",
          "slug": "rbmx2"
        },
        {
          "symbol": "ENOX2",
          "ensemblId": "ENSG00000165675",
          "biotype": "protein_coding",
          "start": 130622325,
          "end": 130903272,
          "strand": "-",
          "slug": "enox2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hearing-loss-and-deafness",
        "name": "Hørselstap og døvhet",
        "diseases": [
          {
            "mondoId": "MONDO:0021944",
            "name": "Auditiv nevropati",
            "genes": 3,
            "inheritance": null,
            "description": "Hørselstap der det indre øret oppfatter lyd, men signalet ikke overføres normalt til hørselsnerven, inkludert arvelige former forårsaket av OTOF og andre gener.",
            "management": "Identifisering av årsaken kan påvirke valget mellom høreapparat og cochleaimplantat, og OTOF-relaterte former er gjenstand for genterapistudier.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019497",
            "name": "Ikke-syndromisk genetisk hørselstap",
            "genes": 97,
            "inheritance": null,
            "description": "Arvelig hørselstap uten andre medisinske trekk, inkludert de vanlige recessive formene forårsaket av GJB2, OTOF, SLC26A4, STRC og mange andre gener, samt dominante, X-bundne og mitokondrielle former.",
            "management": "Kunnskap om den genetiske årsaken kan veilede valg av hørselshjelpemidler og cochleaimplantat, vurdering av om du kan delta i genterapistudier (for eksempel OTOF), og familieveiledning.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/hearing-loss-and-deafness"
      },
      {
        "slug": "hereditary-sensory-and-autonomic-neuropathies",
        "name": "Arvelige sensoriske og autonome nevropatier (inkl. familiær dysautonomi)",
        "diseases": [
          {
            "mondoId": "MONDO:0015364",
            "name": "Arvelig sensorisk og autonom nevropati",
            "genes": 21,
            "inheritance": null,
            "description": "En gruppe nevropatier, inkludert familiær dysautonomi (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) og medfødt smertefølsomhetsmangel (NTRK1, SCN9A, PRDM12). De fleste er recessive, mens HSAN1 er dominant.",
            "management": "Beskyttelse mot ubemerkede skader, brannskader og infeksjoner, håndtering av autonome symptomer, og bærertesting for slektninger (familiær dysautonomi inngår i bærerscreening for askenasisk jødisk bakgrunn).",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/hereditary-sensory-and-autonomic-neuropathies"
      },
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primær mitokondriesykdom",
        "diseases": [
          {
            "mondoId": "MONDO:0000732",
            "name": "Kombinert mangel på oksidativ fosforylering",
            "genes": 48,
            "inheritance": null,
            "description": "Sykdommer, vanligvis forårsaket av kjernegener som er involvert i produksjonen av mitokondrielle proteiner. De reduserer flere respirasjonskjede-komplekser samtidig og gir ofte alvorlig sykdom i flere organsystemer i barndommen.",
            "management": "Å få vite dette kan avslutte en diagnostisk leting og veilede oppfølging og støttende behandling.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/primary-mitochondrial-disease"
      },
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Charcot-Marie-Tooth-sykdom",
        "diseases": [
          {
            "mondoId": "MONDO:0015626",
            "name": "Charcot-Marie-Tooth sykdom",
            "genes": 62,
            "inheritance": null,
            "description": "En gruppe arvelige perifere nevropatier som gir progressiv svakhet og atrofi i de distale musklene og tap av sensibilitet, hovedsakelig i føtter og hender.",
            "management": "Genetisk veiledning, undertypespesifikk oppfølging, fysioterapi, ortopediske hjelpemidler, unngåelse av nevrotoksiske legemidler, genspesifikke kliniske studier, overvåking for tilknyttede symptomer",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "leigh-syndrome",
        "name": "Leighs syndrom",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Leighs syndrom",
            "genes": 69,
            "inheritance": null,
            "description": "En progressiv nevrologisk sykdom preget av spesifikke nevropatologiske trekk, med lesjoner i hjernestammen og basalgangliene.",
            "management": null,
            "evidence": {
              "gencc": [],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/no/conditions/leigh-syndrome"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-astrocyte-morphology",
        "name": "Abnormal astrocyte morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-astrocyte-morphology"
      },
      {
        "slug": "abnormal-basal-ganglia-morphology",
        "name": "Abnormal basal ganglia morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-basal-ganglia-morphology"
      },
      {
        "slug": "abnormal-brainstem-mri-signal-intensity",
        "name": "Abnormal brainstem MRI signal intensity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-brainstem-mri-signal-intensity"
      },
      {
        "slug": "abnormal-corpus-striatum-morphology",
        "name": "Abnormal corpus striatum morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-corpus-striatum-morphology"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-middle-ear-reflexes",
        "name": "Abnormal middle ear reflexes",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/abnormal-middle-ear-reflexes"
      },
      {
        "slug": "abnormal-pyramidal-tract-morphology",
        "name": "Abnormal pyramidal tract morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-tract-morphology"
      },
      {
        "slug": "abnormal-speech-discrimination",
        "name": "Abnormal speech discrimination",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/abnormal-speech-discrimination"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "anterior-rib-cupping",
        "name": "Anterior rib cupping",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/anterior-rib-cupping"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "broad-foot",
        "name": "Broad foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/broad-foot"
      },
      {
        "slug": "broad-nasal-tip",
        "name": "Broad nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/broad-nasal-tip"
      },
      {
        "slug": "broad-palm",
        "name": "Broad palm",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/broad-palm"
      },
      {
        "slug": "metaphyseal-widening",
        "name": "Broad wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-widening"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "coarse-facial-features",
        "name": "Coarse facial features",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/coarse-facial-features"
      },
      {
        "slug": "cochlear-nerve-hypoplasia",
        "name": "Cochlear nerve hypoplasia",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cochlear-nerve-hypoplasia"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "cone-shaped-capital-femoral-epiphysis",
        "name": "Cone-shaped end part of innermost thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/cone-shaped-capital-femoral-epiphysis"
      },
      {
        "slug": "coxa-vara",
        "name": "Coxa vara",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/coxa-vara"
      },
      {
        "slug": "metaphyseal-cupping-of-metacarpals",
        "name": "Cupping of wide portion of long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-cupping-of-metacarpals"
      },
      {
        "slug": "sensory-neuropathy",
        "name": "Damage to nerves that sense feeling",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensory-neuropathy"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "slug": "respiratory-insufficiency-due-to-muscle-weakness",
        "name": "Decreased lung function due to weak breathing muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness"
      },
      {
        "slug": "hypokinesia",
        "name": "Decreased muscle movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypokinesia"
      },
      {
        "slug": "decreased-nerve-conduction-velocity",
        "name": "Decreased nerve conduction velocity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "distal-sensory-impairment",
        "name": "Decreased sensation in extremities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/distal-sensory-impairment"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "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": "sleep-disturbance",
        "name": "Difficulty sleeping",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sleep-disturbance"
      },
      {
        "slug": "distal-lower-limb-amyotrophy",
        "name": "Distal lower limb amyotrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-lower-limb-amyotrophy"
      },
      {
        "slug": "distal-lower-limb-muscle-weakness",
        "name": "Distal lower limb muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "enlargement-of-the-wrists",
        "name": "Enlargement of the wrists",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enlargement-of-the-wrists"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "wormian-bones",
        "name": "Extra bones within cranial sutures",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/wormian-bones"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "flared-iliac-wing",
        "name": "Flared iliac wing",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flared-iliac-wing"
      },
      {
        "slug": "flattened-epiphysis",
        "name": "Flat end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flattened-epiphysis"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "flexion-contracture",
        "name": "Flexed joint that cannot be straightened",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "generalized-onset-seizure",
        "name": "Generalized-onset seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-onset-seizure"
      },
      {
        "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": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "pes-cavus",
        "name": "High-arched foot",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pes-cavus"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "horizontal-nystagmus",
        "name": "Horizontal nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/horizontal-nystagmus"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "hypoplasia-of-the-odontoid-process",
        "name": "Hypoplasia of the odontoid process",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-odontoid-process"
      },
      {
        "slug": "impaired-pain-sensation",
        "name": "Impaired pain sensation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/impaired-pain-sensation"
      },
      {
        "slug": "increased-circulating-lactate-dehydrogenase-concentration",
        "name": "Increased circulating lactate dehydrogenase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration"
      },
      {
        "slug": "increased-circulating-pyruvate-concentration",
        "name": "Increased circulating pyruvate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration"
      },
      {
        "slug": "increased-connective-tissue",
        "name": "Increased connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-connective-tissue"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "involuntary-movements",
        "name": "Involuntary movements",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/involuntary-movements"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "irritability",
        "name": "Irritability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/irritability"
      },
      {
        "slug": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "large-knee",
        "name": "Large knee",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/large-knee"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "low-anterior-hairline",
        "name": "Low frontal hairline",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/low-anterior-hairline"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "metaphyseal-chondrodysplasia",
        "name": "Metaphyseal chondrodysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metaphyseal-chondrodysplasia"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "moderate-global-developmental-delay",
        "name": "Moderate global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/moderate-global-developmental-delay"
      },
      {
        "slug": "motor-axonal-neuropathy",
        "name": "Motor axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/motor-axonal-neuropathy"
      },
      {
        "slug": "motor-polyneuropathy",
        "name": "Motor polyneuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/motor-polyneuropathy"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "sensorimotor-neuropathy",
        "name": "Nerve damage causing decreased feeling and movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorimotor-neuropathy"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "slug": "abnormal-optic-nerve-morphology",
        "name": "Optic nerve issue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-optic-nerve-morphology"
      },
      {
        "slug": "tetraplegia",
        "name": "Paralysis of all four limbs",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tetraplegia"
      },
      {
        "slug": "peg-like-central-prominence-of-distal-tibial-metaphyses",
        "name": "Peg-like central prominence of distal tibial metaphyses",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/peg-like-central-prominence-of-distal-tibial-metaphyses"
      },
      {
        "slug": "polyneuropathy",
        "name": "Peripheral nerve disease",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyneuropathy"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "prominent-sternum",
        "name": "Prominent sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/prominent-sternum"
      },
      {
        "slug": "ragged-red-muscle-fibers",
        "name": "Ragged-red muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ragged-red-muscle-fibers"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "tinnitus",
        "name": "Ringing in ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tinnitus"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "sensory-axonal-neuropathy",
        "name": "Sensory axonal neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensory-axonal-neuropathy"
      },
      {
        "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-finger",
        "name": "Short finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-finger"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "short-femoral-neck",
        "name": "Short neck of thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-femoral-neck"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "small-epiphyses",
        "name": "Small end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/small-epiphyses"
      },
      {
        "slug": "spastic-paraplegia",
        "name": "Spastic paraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-paraplegia"
      },
      {
        "slug": "spondyloepimetaphyseal-dysplasia",
        "name": "Spondyloepimetaphyseal dysplasia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/spondyloepimetaphyseal-dysplasia"
      },
      {
        "slug": "tetraparesis",
        "name": "Tetraparesis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tetraparesis"
      },
      {
        "slug": "thick-eyebrow",
        "name": "Thick eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/thick-eyebrow"
      },
      {
        "slug": "thin-ribs",
        "name": "Thin ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thin-ribs"
      },
      {
        "slug": "thoracic-kyphosis",
        "name": "Thoracic kyphosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/thoracic-kyphosis"
      },
      {
        "slug": "tip-toe-gait",
        "name": "Toe walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tip-toe-gait"
      },
      {
        "slug": "tongue-fasciculations",
        "name": "Tongue twitching",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tongue-fasciculations"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "distal-muscle-weakness",
        "name": "Weakness of outermost muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/distal-muscle-weakness"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "widened-subarachnoid-space",
        "name": "Widened subarachnoid space",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/widened-subarachnoid-space"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [
      {
        "slug": "pnpt1",
        "symbol": "PNPT1",
        "name": "polyribonucleotide nucleotidyltransferase 1",
        "shared": 3,
        "url": "https://dantelabs.com/no/genes/pnpt1"
      },
      {
        "slug": "atp11a",
        "symbol": "ATP11A",
        "name": "ATPase phospholipid transporting 11A",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/atp11a"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/ears2"
      },
      {
        "slug": "fars2",
        "symbol": "FARS2",
        "name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/fars2"
      },
      {
        "slug": "gfm1",
        "symbol": "GFM1",
        "name": "G elongation factor mitochondrial 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/gfm1"
      },
      {
        "slug": "gfm2",
        "symbol": "GFM2",
        "name": "GTP dependent ribosome recycling factor mitochondrial 2",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/gfm2"
      },
      {
        "slug": "gtpbp3",
        "symbol": "GTPBP3",
        "name": "GTP binding protein 3, mitochondrial",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/gtpbp3"
      },
      {
        "slug": "mrps34",
        "symbol": "MRPS34",
        "name": "mitochondrial ribosomal protein S34",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/mrps34"
      },
      {
        "slug": "mtfmt",
        "symbol": "MTFMT",
        "name": "mitochondrial methionyl-tRNA formyltransferase",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/mtfmt"
      },
      {
        "slug": "mtrfr",
        "symbol": "MTRFR",
        "name": "mitochondrial translation release factor in rescue",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/mtrfr"
      },
      {
        "slug": "otof",
        "symbol": "OTOF",
        "name": "otoferlin",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/otof"
      },
      {
        "slug": "prps1",
        "symbol": "PRPS1",
        "name": "phosphoribosyl pyrophosphate synthetase 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/prps1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}