{ "url": "https://dantelabs.com/cs/genes/polg", "gene": { "slug": "polg", "symbol": "POLG", "name": "DNA polymerase gamma, catalytic subunit", "hgnc": "HGNC:9179", "summary": null, "location": "15q26.1", "locusType": "gene with protein product", "aliases": [ "POLG1", "POLGA" ], "previousSymbols": [], "ensemblId": "ENSG00000140521", "entrezId": 5428, "omim": [ "174763" ], "uniprot": [ "P54098" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 89316320, "end": 89334824, "strand": "-", "ensemblTranscript": "ENST00000268124.11", "refseqTranscript": "NM_002693.3", "ensemblProtein": "ENSP00000268124.5", "refseqProtein": "NP_002684.1", "exons": [ { "start": 89316320, "end": 89316827 }, { "start": 89317376, "end": 89317536 }, { "start": 89318541, "end": 89318749 }, { "start": 89318931, "end": 89319099 }, { "start": 89319228, "end": 89319350 }, { "start": 89320766, "end": 89321012 }, { "start": 89321125, "end": 89321260 }, { "start": 89321736, "end": 89321853 }, { "start": 89321962, "end": 89322015 }, { "start": 89322742, "end": 89322902 }, { "start": 89323404, "end": 89323511 }, { "start": 89323815, "end": 89323901 }, { "start": 89324107, "end": 89324227 }, { "start": 89325450, "end": 89325686 }, { "start": 89326612, "end": 89326738 }, { "start": 89326912, "end": 89327063 }, { "start": 89327167, "end": 89327349 }, { "start": 89328456, "end": 89328535 }, { "start": 89328685, "end": 89328831 }, { "start": 89328943, "end": 89329110 }, { "start": 89330081, "end": 89330276 }, { "start": 89333096, "end": 89333913 }, { "start": 89334673, "end": 89334824 } ], "cds": { "start": 89316751, "end": 89333754 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "15", "start": 89859534, "end": 89878092, "strand": "-" }, "neighbourhood": { "release": "116", "start": 88825572, "end": 89825571, "genes": [ { "symbol": "ACAN", "ensemblId": "ENSG00000157766", "biotype": "protein_coding", "start": 88803427, "end": 88875353, "strand": "+", "slug": "acan" }, { "symbol": "HAPLN3", "ensemblId": "ENSG00000140511", "biotype": "protein_coding", "start": 88877289, "end": 88895597, "strand": "-", "slug": "hapln3" }, { "symbol": "MFGE8", "ensemblId": "ENSG00000140545", "biotype": "protein_coding", "start": 88898683, "end": 88913579, "strand": "-", "slug": "mfge8" }, { "symbol": "ABHD2", "ensemblId": "ENSG00000140526", "biotype": "protein_coding", "start": 89087459, "end": 89202355, "strand": "+", "slug": "abhd2" }, { "symbol": "RLBP1", "ensemblId": "ENSG00000140522", "biotype": "protein_coding", "start": 89209869, "end": 89222577, "strand": "-", "slug": "rlbp1" }, { "symbol": "FANCI", "ensemblId": "ENSG00000140525", "biotype": "protein_coding", "start": 89243854, "end": 89318091, "strand": "+", "slug": "fanci" }, { "symbol": "POLGARF", "ensemblId": "ENSG00000291307", "biotype": "protein_coding", "start": 89330208, "end": 89333809, "strand": "-", "slug": "polgarf" }, { "symbol": "RHCG", "ensemblId": "ENSG00000140519", "biotype": "protein_coding", "start": 89451995, "end": 89496815, "strand": "-", "slug": "rhcg" }, { "symbol": "TICRR", "ensemblId": "ENSG00000140534", "biotype": "protein_coding", "start": 89575455, "end": 89631056, "strand": "+", "slug": "ticrr" }, { "symbol": "KIF7", "ensemblId": "ENSG00000166813", "biotype": "protein_coding", "start": 89608789, "end": 89663098, "strand": "-", "slug": "kif7" }, { "symbol": "PLIN1", "ensemblId": "ENSG00000166819", "biotype": "protein_coding", "start": 89664365, "end": 89679466, "strand": "-", "slug": "plin1" }, { "symbol": "PEX11A", "ensemblId": "ENSG00000166821", "biotype": "protein_coding", "start": 89677764, "end": 89690786, "strand": "-", "slug": "pex11a" }, { "symbol": "WDR93", "ensemblId": "ENSG00000140527", "biotype": "protein_coding", "start": 89690810, "end": 89743639, "strand": "+", "slug": "wdr93" }, { "symbol": "MESP1", "ensemblId": "ENSG00000166823", "biotype": "protein_coding", "start": 89749875, "end": 89751301, "strand": "-", "slug": "mesp1" }, { "symbol": "MESP2", "ensemblId": "ENSG00000188095", "biotype": "protein_coding", "start": 89760591, "end": 89778754, "strand": "+", "slug": "mesp2" }, { "symbol": "ANPEP", "ensemblId": "ENSG00000166825", "biotype": "protein_coding", "start": 89784875, "end": 89815401, "strand": "-", "slug": "anpep" } ], "truncated": false }, "reports": [ { "slug": "primary-mitochondrial-disease", "name": "Primary Mitochondrial Disease", "diseases": [ { "mondoId": "MONDO:0016798", "name": "Ataxia Neuropathy Spectrum", "genes": 1, "inheritance": null, "description": "A POLG- or TWNK-related disorder causing problems with balance and coordination, sensory nerve damage, eye movement problems and sometimes seizures.", "management": "Knowing guides seizure management, including avoiding valproate.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0000090", "name": "Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions", "genes": 8, "inheritance": null, "description": "Caused by variants in nuclear genes such as POLG, TWNK, SLC25A4 and RRM2B that lead to multiple mitochondrial DNA deletions, causing drooping eyelids, weak eye movements and muscle weakness, usually in adulthood.", "management": "Knowing guides monitoring of eye, heart and swallowing function and avoidance of valproate in POLG disease.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0018158", "name": "Mitochondrial DNA Depletion Syndrome", "genes": 20, "inheritance": null, "description": "Caused by variants in nuclear genes such as POLG, TWNK, TK2, DGUOK, MPV17, RRM2B and SUCLA2, which reduce the amount of mitochondrial DNA and can cause muscle, liver or brain disease.", "management": "Knowing is directly actionable: valproate must be avoided in POLG disease because of the risk of fatal liver failure, and TK2 deficiency has a nucleoside therapy.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/cs/conditions/primary-mitochondrial-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "3-methylglutaconic-aciduria", "name": "3-Methylglutaconic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/3-methylglutaconic-aciduria" }, { "slug": "abdominal-distention", "name": "Abdominal bloating", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abdominal-distention" }, { "slug": "abdominal-cramps", "name": "Abdominal cramps", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abdominal-cramps" }, { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormal-cell-morphology", "name": "Abnormal cell morphology", "systems": [ "abnormal-cellular-phenotype" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cell-morphology" }, { "slug": "abnormal-cerebellar-cortex-morphology", "name": "Abnormal cerebellar cortex morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cerebellar-cortex-morphology" }, { "slug": "abnormal-cerebral-white-matter-morphology", "name": "Abnormal cerebral white matter morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology" }, { "slug": "abnormal-cerebrospinal-fluid-morphology", "name": "Abnormal cerebrospinal fluid morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cerebrospinal-fluid-morphology" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "abnormal-thalamic-mri-signal-intensity", "name": "Abnormal thalamic MRI signal intensity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-thalamic-mri-signal-intensity" }, { "slug": "abnormal-vestibular-function", "name": "Abnormal vestibular function", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-vestibular-function" }, { "slug": "abnormality-of-central-motor-conduction", "name": "Abnormality of central motor conduction", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-central-motor-conduction" }, { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "slug": "abnormality-of-eye-movement", "name": "Abnormality of eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-eye-movement" }, { "slug": "abnormality-of-movement", "name": "Abnormality of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-movement" }, { "slug": "abnormality-of-the-extraocular-muscles", "name": "Abnormality of the extraocular muscles", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-extraocular-muscles" }, { "slug": "abnormality-of-the-eye", "name": "Abnormality of the eye", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-eye" }, { "slug": "abnormality-of-the-gastrointestinal-tract", "name": "Abnormality of the gastrointestinal tract", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-gastrointestinal-tract" }, { "slug": "abnormality-of-the-hand", "name": "Abnormality of the hand", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-hand" }, { "slug": "abnormality-of-the-liver", "name": "Abnormality of the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-liver" }, { "slug": "abnormality-of-the-mitochondrion", "name": "Abnormality of the mitochondrion", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-mitochondrion" }, { "slug": "abnormality-of-vision", "name": "Abnormality of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-vision" }, { "slug": "abnormality-of-visual-evoked-potentials", "name": "Abnormality of visual evoked potentials", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormality-of-visual-evoked-potentials" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-achilles-reflex", "name": "Absent ankle reflexes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-achilles-reflex" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "ascites", "name": "Accumulation of fluid in the abdomen", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ascites" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "aciduria", "name": "Acidic urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/aciduria" }, { "slug": "action-tremor", "name": "Action tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/action-tremor" }, { "slug": "acute-hepatic-failure", "name": "Acute liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/acute-hepatic-failure" }, { "slug": "allodynia", "name": "Allodynia", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/allodynia" }, { "slug": "anasarca", "name": "Anasarca", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anasarca" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "areflexia-of-lower-limbs", "name": "Areflexia of lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/areflexia-of-lower-limbs" }, { "slug": "astrocytosis", "name": "Astrocytosis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/astrocytosis" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "atrophic-muscularis-propria", "name": "Atrophic muscularis propria", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/atrophic-muscularis-propria" }, { "slug": "atrophy-degeneration-involving-the-spinal-cord", "name": "Atrophy/Degeneration involving the spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atrophy-degeneration-involving-the-spinal-cord" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "facial-palsy", "name": "Bell's palsy", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/facial-palsy" }, { "slug": "bilateral-sensorineural-hearing-impairment", "name": "Bilateral sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment" }, { "slug": "bilateral-tonic-clonic-seizure-with-focal-onset", "name": "Bilateral tonic-clonic seizure with focal onset", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure-with-focal-onset" }, { "slug": "bile-duct-proliferation", "name": "Bile duct proliferation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bile-duct-proliferation" }, { "slug": "bipolar-affective-disorder", "name": "Bipolar disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/bipolar-affective-disorder" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "rhabdomyolysis", "name": "Breakdown of skeletal muscle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/rhabdomyolysis" }, { "slug": "emotional-lability", "name": "Can't control feelings", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emotional-lability" }, { "slug": "centrally-nucleated-skeletal-muscle-fibers", "name": "Centrally nucleated skeletal muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers" }, { "slug": "cerebral-cortical-neurodegeneration", "name": "Cerebral cortical neurodegeneration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-cortical-neurodegeneration" }, { "slug": "cerebral-infarct", "name": "Cerebral infarct", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-infarct" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "choreoathetosis", "name": "Choreoathetosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/choreoathetosis" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "cogwheel-rigidity", "name": "Cogwheel rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cogwheel-rigidity" }, { "slug": "colonic-diverticula", "name": "Colonic diverticula", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/colonic-diverticula" }, { "slug": "dyschromatopsia", "name": "Color blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dyschromatopsia" }, { "slug": "coma", "name": "Coma", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coma" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "cytochrome-c-oxidase-negative-muscle-fibers", "name": "Cytochrome C oxidase-negative muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cytochrome-c-oxidase-negative-muscle-fibers" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "slug": "decreased-activity-of-mitochondrial-complex-i", "name": "Decreased activity of mitochondrial complex I", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i" }, { "slug": "decreased-activity-of-mitochondrial-complex-iv", "name": "Decreased activity of mitochondrial complex IV", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv" }, { "slug": "hypomimic-face", "name": "Decreased facial expressions", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypomimic-face" }, { "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" ], "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness" }, { "slug": "decreased-motor-nerve-conduction-velocity", "name": "Decreased motor nerve conduction velocity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-motor-nerve-conduction-velocity" }, { "slug": "decreased-muscle-mass", "name": "Decreased muscle mass", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-muscle-mass" }, { "slug": "hypokinesia", "name": "Decreased muscle movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypokinesia" }, { "slug": "decreased-number-of-large-peripheral-myelinated-nerve-fibers", "name": "Decreased number of large peripheral myelinated nerve fibers", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-number-of-large-peripheral-myelinated-nerve-fibers" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "distal-sensory-impairment", "name": "Decreased sensation in extremities", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/distal-sensory-impairment" }, { "slug": "decreased-sensory-nerve-conduction-velocity", "name": "Decreased sensory nerve conduction velocity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-sensory-nerve-conduction-velocity" }, { "slug": "impaired-distal-tactile-sensation", "name": "Decreased touch sensation in extremities", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/impaired-distal-tactile-sensation" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "gastroparesis", "name": "Delayed gastric emptying", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroparesis" }, { "slug": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dementia" }, { "slug": "demyelinating-peripheral-neuropathy", "name": "Demyelinating peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy" }, { "slug": "depletion-of-mitochondrial-dna-in-muscle-tissue", "name": "Depletion of mitochondrial DNA in muscle tissue", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/depletion-of-mitochondrial-dna-in-muscle-tissue" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depression" }, { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/diabetes-mellitus" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dysdiadochokinesis", "name": "Difficulty performing quick and alternating movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysdiadochokinesis" }, { "slug": "difficulty-climbing-stairs", "name": "Difficulty walking up stairs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/difficulty-climbing-stairs" }, { "slug": "generalized-amyotrophy", "name": "Diffuse skeletal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-amyotrophy" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "distal-amyotrophy", "name": "Distal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/distal-amyotrophy" }, { "slug": "diplopia", "name": "Double vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/diplopia" }, { "slug": "bilateral-ptosis", "name": "Drooping of both upper eyelids", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-ptosis" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "premature-ovarian-insufficiency", "name": "Early menopause", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency" }, { "slug": "eeg-with-occipital-epileptiform-discharges", "name": "EEG with occipital epileptiform discharges", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eeg-with-occipital-epileptiform-discharges" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "elevated-circulating-deoxyuridine-concentration", "name": "Elevated circulating deoxyuridine concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-deoxyuridine-concentration" }, { "slug": "elevated-circulating-thymidine-concentration", "name": "Elevated circulating thymidine concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-thymidine-concentration" }, { "slug": "emg-myopathic-abnormalities", "name": "EMG: myopathic abnormalities", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "goiter", "name": "Enlarged thyroid gland in neck", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/goiter" }, { "slug": "epilepsia-partialis-continua", "name": "Epilepsia partialis continua", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epilepsia-partialis-continua" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "ethylmalonic-aciduria", "name": "Ethylmalonic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/ethylmalonic-aciduria" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "mask-like-facies", "name": "Expressionless face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mask-like-facies" }, { "slug": "ophthalmoplegia", "name": "Eye muscle paralysis", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ophthalmoplegia" }, { "slug": "facial-diplegia", "name": "Facial diplegia", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/facial-diplegia" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "early-satiety", "name": "Feeling full quickly when eating", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/early-satiety" }, { "slug": "fiber-type-grouping", "name": "Fiber type grouping", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fiber-type-grouping" }, { "slug": "tracheomalacia", "name": "Floppy windpipe", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tracheomalacia" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/edema" }, { "slug": "focal-myoclonic-seizure", "name": "Focal myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-myoclonic-seizure" }, { "slug": "focal-t2-hyperintense-thalamic-lesion", "name": "Focal T2 hyperintense thalamic lesion", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-t2-hyperintense-thalamic-lesion" }, { "slug": "focal-white-matter-lesions", "name": "Focal white matter lesions", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-white-matter-lesions" }, { "slug": "foot-dorsiflexor-weakness", "name": "Foot drop", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness" }, { "slug": "frequent-falls", "name": "Frequent falls", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/frequent-falls" }, { "slug": "gastrointestinal-dysmotility", "name": "Gastrointestinal dysmotility", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gastrointestinal-dysmotility" }, { "slug": "gaze-evoked-nystagmus", "name": "Gaze-evoked nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "generalized-muscle-weakness", "name": "Generalized muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-muscle-weakness" }, { "slug": "generalized-non-convulsive-status-epilepticus-without-coma", "name": "Generalized non-convulsive status epilepticus without coma", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-non-convulsive-status-epilepticus-without-coma" }, { "slug": "gliosis", "name": "Gliosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gliosis" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "glucose-intolerance", "name": "Glucose intolerance", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/glucose-intolerance" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "hand-muscle-weakness", "name": "Hand muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hand-muscle-weakness" }, { "slug": "hand-tremor", "name": "Hand tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hand-tremor" }, { "slug": "hashimoto-thyroiditis", "name": "Hashimoto thyroiditis", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hashimoto-thyroiditis" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hemianopia", "name": "Hemianopia", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hemianopia" }, { "slug": "ketosis", "name": "High levels of ketone bodies", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/ketosis" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "steppage-gait", "name": "High stepping", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/steppage-gait" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "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": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "hypergonadotropic-hypogonadism", "name": "Hypergonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypergonadotropic-hypogonadism" }, { "slug": "hypogonadotropic-hypogonadism", "name": "Hypogonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism" }, { "slug": "hypointensity-of-cerebral-white-matter-on-mri", "name": "Hypointensity of cerebral white matter on MRI", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hypointensity-of-cerebral-white-matter-on-mri" }, { "slug": "impaired-distal-proprioception", "name": "Impaired distal proprioception", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-distal-proprioception" }, { "slug": "impaired-distal-vibration-sensation", "name": "Impaired distal vibration sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation" }, { "slug": "impaired-vibratory-sensation", "name": "Impaired vibratory sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-vibratory-sensation" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "dysphonia", "name": "Inability to produce voice sounds", "systems": [ "abnormality-of-the-voice" ], "url": "https://dantelabs.com/traits/dysphonia" }, { "slug": "hyperalaninemia", "name": "Increased blood alanine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperalaninemia" }, { "slug": "hyperactive-bowel-sounds", "name": "Increased bowel sounds", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperactive-bowel-sounds" }, { "slug": "increased-circulating-pyruvate-concentration", "name": "Increased circulating pyruvate concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration" }, { "slug": "increased-csf-protein-concentration", "name": "Increased CSF protein concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-csf-protein-concentration" }, { "slug": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "increased-variability-in-muscle-fiber-diameter", "name": "Increased variability in muscle fiber diameter", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter" }, { "slug": "truncal-ataxia", "name": "Instability or lack of coordination of central trunk muscles", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/truncal-ataxia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "intention-tremor", "name": "Intention tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intention-tremor" }, { "slug": "intermittent-diarrhea", "name": "Intermittent diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/intermittent-diarrhea" }, { "slug": "intestinal-perforation", "name": "Intestinal perforation", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/intestinal-perforation" }, { "slug": "intestinal-pseudo-obstruction", "name": "Intestinal pseudo-obstruction", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intestinal-pseudo-obstruction" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "esotropia", "name": "Inward turning cross eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/esotropia" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "left-ventricular-hypertrophy", "name": "Left ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "leukoencephalopathy", "name": "Leukoencephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/leukoencephalopathy" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "limb-muscle-weakness", "name": "Limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-muscle-weakness" }, { "slug": "hepatic-failure", "name": "Liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatic-failure" }, { "slug": "neuronal-loss-in-central-nervous-system", "name": "Loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/neuronal-loss-in-central-nervous-system" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "macrovesicular-hepatic-steatosis", "name": "Macrovesicular hepatic steatosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrovesicular-hepatic-steatosis" }, { "slug": "malabsorption", "name": "Malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/malabsorption" }, { "slug": "malnutrition", "name": "Malnutrition", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/malnutrition" }, { "slug": "memory-impairment", "name": "Memory impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/memory-impairment" }, { "slug": "micronodular-cirrhosis", "name": "Micronodular cirrhosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/micronodular-cirrhosis" }, { "slug": "microvesicular-hepatic-steatosis", "name": "Microvesicular hepatic steatosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/microvesicular-hepatic-steatosis" }, { "slug": "migraine", "name": "Migraine", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/migraine" }, { "slug": "mildly-elevated-creatine-kinase", "name": "Mildly elevated creatine kinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mildly-elevated-creatine-kinase" }, { "slug": "mitochondrial-myopathy", "name": "Mitochondrial myopathy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mitochondrial-myopathy" }, { "slug": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "mitral-valve-prolapse", "name": "Mitral valve prolapse", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mitral-valve-prolapse" }, { "slug": "movement-abnormality-of-the-tongue", "name": "Movement abnormality of the tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/movement-abnormality-of-the-tongue" }, { "slug": "multiple-mitochondrial-dna-deletions", "name": "Multiple mitochondrial DNA deletions", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/multiple-mitochondrial-dna-deletions" }, { "slug": "myalgia", "name": "Muscle ache", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myalgia" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "muscle-fiber-atrophy", "name": "Muscle fiber degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/muscle-fiber-atrophy" }, { "slug": "muscle-fiber-necrosis", "name": "Muscle fiber necrosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-fiber-necrosis" }, { "slug": "muscle-spasm", "name": "Muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/muscle-spasm" }, { "slug": "muscle-stiffness", "name": "Muscle stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-stiffness" }, { "slug": "myopathy", "name": "Muscle tissue disease", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopathy" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "hypernasal-speech", "name": "Nasal speech", "systems": [ "abnormality-of-the-voice" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypernasal-speech" }, { "slug": "nausea", "name": "Nausea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nausea" }, { "slug": "neck-flexor-weakness", "name": "Neck flexion weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neck-flexor-weakness" }, { "slug": "sensorimotor-neuropathy", "name": "Nerve damage causing decreased feeling and movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorimotor-neuropathy" }, { "slug": "nocturia", "name": "Nocturia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/nocturia" }, { "slug": "hypoesthesia", "name": "Numbness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoesthesia" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "optic-neuritis", "name": "Optic neuritis", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-neuritis" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "hyperthyroidism", "name": "Overactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hyperthyroidism" }, { "slug": "palpitations", "name": "Palpitations", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/palpitations" }, { "slug": "paralysis", "name": "Paralysis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/paralysis" }, { "slug": "external-ophthalmoplegia", "name": "Paralysis or weakness of muscles within or surrounding outer part of eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/external-ophthalmoplegia" }, { "slug": "parkinsonism", "name": "Parkinsonism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/parkinsonism" }, { "slug": "parkinsonism-with-favorable-response-to-dopaminergic-medication", "name": "Parkinsonism with favorable response to dopaminergic medication", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/parkinsonism-with-favorable-response-to-dopaminergic-medication" }, { "slug": "paraparesis", "name": "Partial paralysis of legs", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/paraparesis" }, { "slug": "peripheral-axonal-neuropathy", "name": "Peripheral axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "paresthesia", "name": "Pins and needles feeling", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/paresthesia" }, { "slug": "poor-appetite", "name": "Poor appetite", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/poor-appetite" }, { "slug": "diminished-ability-to-concentrate", "name": "Poor concentration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/diminished-ability-to-concentrate" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "positive-romberg-sign", "name": "Positive Romberg sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/positive-romberg-sign" }, { "slug": "secondary-amenorrhea", "name": "Previous menstrual periods stop", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/secondary-amenorrhea" }, { "slug": "primary-amenorrhea", "name": "Primary amenorrhea", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/primary-amenorrhea" }, { "slug": "progressive-encephalopathy", "name": "Progressive brain disease", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-encephalopathy" }, { "slug": "progressive-cerebellar-ataxia", "name": "Progressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia" }, { "slug": "progressive-external-ophthalmoplegia", "name": "Progressive external ophthalmoplegia", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/progressive-external-ophthalmoplegia" }, { "slug": "progressive-gait-ataxia", "name": "Progressive gait ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/progressive-gait-ataxia" }, { "slug": "progressive-muscle-weakness", "name": "Progressive muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/progressive-muscle-weakness" }, { "slug": "progressive-spasticity", "name": "Progressive spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-spasticity" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "quadriceps-muscle-weakness", "name": "Quadriceps weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/quadriceps-muscle-weakness" }, { "slug": "atrial-fibrillation", "name": "Quivering upper heart chambers resulting in irregular heartbeat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrial-fibrillation" }, { "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": "reduced-left-ventricular-ejection-fraction", "name": "Reduced left ventricular ejection fraction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-left-ventricular-ejection-fraction" }, { "slug": "reduced-tissue-thymidine-phosphorylase-activity", "name": "Reduced tissue thymidine phosphorylase activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-tissue-thymidine-phosphorylase-activity" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "resting-tremor", "name": "Resting tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/resting-tremor" }, { "slug": "abnormal-retinal-morphology", "name": "Retina issue", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-retinal-morphology" }, { "slug": "retinal-pigment-epithelial-mottling", "name": "Retinal pigment epithelial mottling", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-mottling" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "cirrhosis", "name": "Scar tissue replaces healthy tissue in the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cirrhosis" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "focal-onset-seizure", "name": "Seizure affecting one half of brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-onset-seizure" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "sensory-ataxia", "name": "Sensory ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensory-ataxia" }, { "slug": "sensory-ataxic-neuropathy", "name": "Sensory ataxic neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensory-ataxic-neuropathy" }, { "slug": "sensory-axonal-neuropathy", "name": "Sensory axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensory-axonal-neuropathy" }, { "slug": "shuffling-gait", "name": "Shuffled walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/shuffling-gait" }, { "slug": "slender-build", "name": "Slender build", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/slender-build" }, { "slug": "hypoventilation", "name": "Slow breathing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoventilation" }, { "slug": "bradykinesia", "name": "Slow movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bradykinesia" }, { "slug": "slurred-speech", "name": "Slurred speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/slurred-speech" }, { "slug": "small-intestinal-dysmotility", "name": "Small intestinal dysmotility", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/small-intestinal-dysmotility" }, { "slug": "spastic-paraparesis", "name": "Spastic paraparesis", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spastic-paraparesis" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "st-segment-elevation", "name": "ST segment elevation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/st-segment-elevation" }, { "slug": "stooped-posture", "name": "Stooped posture", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/stooped-posture" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "subsarcolemmal-accumulations-of-abnormally-shaped-mitochondria", "name": "Subsarcolemmal accumulations of abnormally shaped mitochondria", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/subsarcolemmal-accumulations-of-abnormally-shaped-mitochondria" }, { "slug": "testicular-atrophy", "name": "Testicular degeneration", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/testicular-atrophy" }, { "slug": "tetraparesis", "name": "Tetraparesis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tetraparesis" }, { "slug": "easy-fatigability", "name": "Tired easily", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/easy-fatigability" }, { "slug": "total-ophthalmoplegia", "name": "Total ophthalmoplegia", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/total-ophthalmoplegia" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "muscle-fibrillation", "name": "Twitching", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-fibrillation" }, { "slug": "limb-dysmetria", "name": "Uncoordinated limb movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-dysmetria" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "upgaze-palsy", "name": "Upgaze palsy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/upgaze-palsy" }, { "slug": "vegetative-state", "name": "Vegetative state", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vegetative-state" }, { "slug": "ventricular-arrhythmia", "name": "Ventricular arrhythmia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-arrhythmia" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/visual-loss" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "cachexia", "name": "Wasting syndrome", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cachexia" }, { "slug": "shoulder-girdle-muscle-weakness", "name": "Weak shoulder muscles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/shoulder-girdle-muscle-weakness" }, { "slug": "weak-voice", "name": "Weak voice", "systems": [ "abnormality-of-the-voice" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/weak-voice" }, { "slug": "weakness-of-facial-musculature", "name": "Weakness of facial musculature", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/weakness-of-facial-musculature" }, { "slug": "ophthalmoparesis", "name": "Weakness of muscles controlling eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ophthalmoparesis" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-muscle-weakness" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/weight-loss" }, { "slug": "broad-based-gait", "name": "Wide based walk", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/broad-based-gait" }, { "slug": "scapular-winging", "name": "Winged shoulder blade", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scapular-winging" }, { "slug": "progressive-neurologic-deterioration", "name": "Worsening neurological symptoms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration" } ], "related": [ { "slug": "dna2", "symbol": "DNA2", "name": "DNA replication helicase/nuclease 2", "shared": 2, "url": "https://dantelabs.com/cs/genes/dna2" }, { "slug": "rrm2b", "symbol": "RRM2B", "name": "ribonucleotide reductase regulatory TP53 inducible subunit M2B", "shared": 2, "url": "https://dantelabs.com/cs/genes/rrm2b" }, { "slug": "slc25a4", "symbol": "SLC25A4", "name": "solute carrier family 25 member 4", "shared": 2, "url": "https://dantelabs.com/cs/genes/slc25a4" }, { "slug": "twnk", "symbol": "TWNK", "name": "twinkle mtDNA helicase", "shared": 2, "url": "https://dantelabs.com/cs/genes/twnk" }, { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/cs/genes/afg3l2" }, { "slug": "agk", "symbol": "AGK", "name": "acylglycerol kinase", "shared": 1, "url": "https://dantelabs.com/cs/genes/agk" }, { "slug": "dguok", "symbol": "DGUOK", "name": "deoxyguanosine kinase", "shared": 1, "url": "https://dantelabs.com/cs/genes/dguok" }, { "slug": "fbxl4", "symbol": "FBXL4", "name": "F-box and leucine rich repeat protein 4", "shared": 1, "url": "https://dantelabs.com/cs/genes/fbxl4" }, { "slug": "guk1", "symbol": "GUK1", "name": "guanylate kinase 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/guk1" }, { "slug": "lig3", "symbol": "LIG3", "name": "DNA ligase 3", "shared": 1, "url": "https://dantelabs.com/cs/genes/lig3" }, { "slug": "mgme1", "symbol": "MGME1", "name": "mitochondrial genome maintenance exonuclease 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/mgme1" }, { "slug": "mpv17", "symbol": "MPV17", "name": "mitochondrial inner membrane protein MPV17", "shared": 1, "url": "https://dantelabs.com/cs/genes/mpv17" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }