{
  "url": "https://dantelabs.com/el/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
        },
        {
          "start": 130131675,
          "end": 130131799
        },
        {
          "start": 130133313,
          "end": 130133455
        },
        {
          "start": 130136045,
          "end": 130136185
        },
        {
          "start": 130136643,
          "end": 130136731
        },
        {
          "start": 130137078,
          "end": 130137185
        },
        {
          "start": 130138593,
          "end": 130138701
        },
        {
          "start": 130139795,
          "end": 130139871
        },
        {
          "start": 130140533,
          "end": 130140617
        },
        {
          "start": 130145479,
          "end": 130145569
        },
        {
          "start": 130147493,
          "end": 130147623
        },
        {
          "start": 130147752,
          "end": 130147876
        },
        {
          "start": 130149469,
          "end": 130149568
        },
        {
          "start": 130156461,
          "end": 130156603
        },
        {
          "start": 130165551,
          "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": "Απώλεια ακοής και κώφωση",
        "diseases": [
          {
            "mondoId": "MONDO:0021944",
            "name": "Νευροπάθεια ακουστικού νεύρου",
            "genes": 3,
            "inheritance": null,
            "description": "Απώλεια ακοής κατά την οποία το έσω ους ανιχνεύει τον ήχο, αλλά το σήμα δεν μεταδίδεται κανονικά στο ακουστικό νεύρο, συμπεριλαμβανομένων των κληρονομικών μορφών που προκαλούνται από το OTOF και άλλα γονίδια.",
            "management": "Ο προσδιορισμός της αιτίας μπορεί να επηρεάσει την επιλογή μεταξύ ακουστικών βαρηκοΐας και εμφυτευμάτων κοχλία, ενώ οι μορφές που σχετίζονται με το OTOF αποτελούν αντικείμενο κλινικών δοκιμών γονιδιακής θεραπείας.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019497",
            "name": "Μη συνδρομική γενετική απώλεια ακοής",
            "genes": 97,
            "inheritance": null,
            "description": "Κληρονομική απώλεια ακοής χωρίς άλλα ιατρικά συμπτώματα, συμπεριλαμβανομένων των συχνών υπολειπόμενων μορφών που προκαλούνται από τα GJB2, OTOF, SLC26A4, STRC και πολλά άλλα γονίδια, καθώς και των επικρατουσών, των φυλοσύνδετων και των μιτοχονδριακών μορφών.",
            "management": "Η γνώση της γενετικής αιτίας μπορεί να καθοδηγήσει την υποστήριξη ακοής και τις αποφάσεις για εμφύτευμα κοχλία, την επιλεξιμότητα για κλινικές δοκιμές γονιδιακής θεραπείας (για παράδειγμα για το OTOF) και τη γενετική συμβουλευτική της οικογένειας.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hearing-loss-and-deafness"
      },
      {
        "slug": "hereditary-sensory-and-autonomic-neuropathies",
        "name": "Κληρονομικές αισθητικές και αυτονομές νευροπάθειες (συμπεριλαμβανομένης της Οικογενούς Δυσαυτονομίας)",
        "diseases": [
          {
            "mondoId": "MONDO:0015364",
            "name": "Κληρονομική αισθητική και αυτονομή νευροπάθεια",
            "genes": 21,
            "inheritance": null,
            "description": "Μια ομάδα νευροπαθειών, που περιλαμβάνει την οικογενή δυσαυτονομία (ELP1), την HSAN1 (SPTLC1/SPTLC2), την HSAN2 (WNK1, RETREG1) και τη συγγενή αναλγησία (NTRK1, SCN9A, PRDM12). Οι περισσότερες από αυτές είναι υπολειπόμενες, ενώ η HSAN1 είναι επικρατής.",
            "management": "Προστασία από απαρατήρητους τραυματισμούς, εγκαύματα και λοιμώξεις, διαχείριση των αυτονομών συμπτωμάτων και έλεγχος φορέα για συγγενείς (η οικογενής δυσαυτονομία περιλαμβάνεται στον έλεγχο φορέων Ασκενάζι Εβραϊκής καταγωγής).",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hereditary-sensory-and-autonomic-neuropathies"
      },
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primäre mitochondriale Erkrankung",
        "diseases": [
          {
            "mondoId": "MONDO:0000732",
            "name": "Kombinierter Mangel an oxidativer Phosphorylierung",
            "genes": 48,
            "inheritance": null,
            "description": "Erkrankungen, die meist durch Kerngene verursacht werden, die an der Produktion mitochondrialer Proteine beteiligt sind. Sie vermindern gleichzeitig mehrere Komplexe der Atmungskette und führen häufig im Kindesalter zu schweren Erkrankungen mehrerer Organsysteme.",
            "management": "Die Kenntnis kann eine diagnostische Suche beenden und die Überwachung sowie unterstützende Betreuung leiten.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/primary-mitochondrial-disease"
      },
      {
        "slug": "charcot-marie-tooth-disease-type-1",
        "name": "Νόσος Charcot-Marie-Tooth",
        "diseases": [
          {
            "mondoId": "MONDO:0015626",
            "name": "Νόσος Charcot-Marie-Tooth",
            "genes": 62,
            "inheritance": null,
            "description": "Μια ομάδα κληρονομικών περιφερικών νευροπαθειών που προκαλούν προοδευτική αδυναμία και ατροφία των απομακρυσμένων μυών και απώλεια αισθητικότητας, κυρίως στα πόδια και στα χέρια.",
            "management": "Γενετική συμβουλευτική, παρακολούθηση ανάλογα με τον υποτύπο, φυσικοθεραπεία, ορθωτικές συσκευές, αποφυγή νευροτοξικών φαρμάκων, κλινικές μελέτες ειδικές για συγκεκριμένα γονίδια, επιτήρηση για συναφή χαρακτηριστικά",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/charcot-marie-tooth-disease-type-1"
      },
      {
        "slug": "leigh-syndrome",
        "name": "Σύνδρομο Leigh",
        "diseases": [
          {
            "mondoId": "MONDO:0009723",
            "name": "Σύνδρομο Leigh",
            "genes": 69,
            "inheritance": null,
            "description": "Μια προοδευτική νευρολογική νόσος που χαρακτηρίζεται από συγκεκριμένα νευροπαθολογικά ευρήματα, τα οποία συνδυάζουν βλάβες του εγκεφαλικού στελέχους και των βασικών γαγγλίων.",
            "management": null,
            "evidence": {
              "gencc": [],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/leigh-syndrome"
      },
      {
        "slug": "rare-hereditary-peripheral-neuropathies",
        "name": "Σπάνιες κληρονομικές περιφερικές νευροπάθειες",
        "diseases": [
          {
            "mondoId": "MONDO:0020127",
            "name": "Κληρονομική περιφερική νευροπάθεια",
            "genes": 233,
            "inheritance": null,
            "description": "Προκαλείται από μεταβολές σε ένα από τα πολλά γονίδια που είναι απαραίτητα για τη διατήρηση της υγείας των μακριών νευρικών ινών. Σε αυτή την αναφορά, μεταξύ αυτών περιλαμβάνονται τα IGHMBP2 και PLEKHG5, τα οποία είναι υπολειπόμενα.",
            "management": "Η φυσικοθεραπεία, οι ορθώσεις και η εργοθεραπεία βοηθούν στη διατήρηση της κινητικότητας, με χειρουργική επέμβαση για παραμορφώσεις των ποδιών όταν χρειάζεται. Ορισμένες μορφές απαιτούν παρακολούθηση της αναπνοής. Η γενετική συμβουλευτική καθοδηγεί τον έλεγχο της οικογένειας σύμφωνα με τον τρόπο κληρονομικότητας του εμπλεκόμενου γονιδίου.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/rare-hereditary-peripheral-neuropathies"
      }
    ],
    "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": 4,
        "url": "https://dantelabs.com/el/genes/pnpt1"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/ears2"
      },
      {
        "slug": "fars2",
        "symbol": "FARS2",
        "name": "phenylalanyl-tRNA synthetase 2, mitochondrial",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/fars2"
      },
      {
        "slug": "gfm1",
        "symbol": "GFM1",
        "name": "G elongation factor mitochondrial 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/gfm1"
      },
      {
        "slug": "gfm2",
        "symbol": "GFM2",
        "name": "GTP dependent ribosome recycling factor mitochondrial 2",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/gfm2"
      },
      {
        "slug": "gtpbp3",
        "symbol": "GTPBP3",
        "name": "GTP binding protein 3, mitochondrial",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/gtpbp3"
      },
      {
        "slug": "mrps34",
        "symbol": "MRPS34",
        "name": "mitochondrial ribosomal protein S34",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/mrps34"
      },
      {
        "slug": "mtfmt",
        "symbol": "MTFMT",
        "name": "mitochondrial methionyl-tRNA formyltransferase",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/mtfmt"
      },
      {
        "slug": "mtrfr",
        "symbol": "MTRFR",
        "name": "mitochondrial translation release factor in rescue",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/mtrfr"
      },
      {
        "slug": "prps1",
        "symbol": "PRPS1",
        "name": "phosphoribosyl pyrophosphate synthetase 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/prps1"
      },
      {
        "slug": "sco2",
        "symbol": "SCO2",
        "name": "synthesis of cytochrome C oxidase 2",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/sco2"
      },
      {
        "slug": "surf1",
        "symbol": "SURF1",
        "name": "SURF1 cytochrome c oxidase assembly factor",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/surf1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}