{ "url": "https://dantelabs.com/el/genes/ryr1", "gene": { "slug": "ryr1", "symbol": "RYR1", "name": "ryanodine receptor 1", "hgnc": "HGNC:10483", "summary": null, "location": "19q13.2", "locusType": "gene with protein product", "aliases": [ "RYR", "PPP1R137" ], "previousSymbols": [ "MHS", "MHS1", "CCO" ], "ensemblId": "ENSG00000196218", "entrezId": 6261, "omim": [ "180901" ], "uniprot": [ "P21817" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 38433691, "end": 38587564, "strand": "+", "ensemblTranscript": "ENST00000359596.8", "refseqTranscript": "NM_000540.3", "ensemblProtein": "ENSP00000352608.2", "refseqProtein": "NP_000531.2", "exons": [ { "start": 38433691, "end": 38433874 }, { "start": 38440745, "end": 38440864 }, { "start": 38442349, "end": 38442453 }, { "start": 38443558, "end": 38443632 }, { "start": 38443718, "end": 38443796 }, { "start": 38444149, "end": 38444261 }, { "start": 38444584, "end": 38444677 }, { "start": 38446472, "end": 38446565 }, { 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"release": "87", "chrom": "19", "start": 38924339, "end": 39078204, "strand": "+" }, "neighbourhood": { "release": "116", "start": 38010628, "end": 39010627, "genes": [ { "symbol": "SIPA1L3", "ensemblId": "ENSG00000105738", "biotype": "protein_coding", "start": 37907200, "end": 38208369, "strand": "+", "slug": "sipa1l3" }, { "symbol": "DPF1", "ensemblId": "ENSG00000011332", "biotype": "protein_coding", "start": 38211006, "end": 38229729, "strand": "-", "slug": "dpf1" }, { "symbol": "SPINT2", "ensemblId": "ENSG00000167642", "biotype": "protein_coding", "start": 38244035, "end": 38292615, "strand": "+", "slug": "spint2" }, { "symbol": "PPP1R14A", "ensemblId": "ENSG00000167641", "biotype": "protein_coding", "start": 38250856, "end": 38256615, "strand": "-", "slug": "ppp1r14a" }, { "symbol": "", "ensemblId": "ENSG00000267748", "biotype": "protein_coding", "start": 38289151, "end": 38304910, "strand": "+" }, { "symbol": "YIF1B", "ensemblId": "ENSG00000167645", "biotype": "protein_coding", "start": 38303558, "end": 38317273, "strand": "-", "slug": "yif1b" }, { "symbol": "C19orf33", "ensemblId": "ENSG00000167644", "biotype": "protein_coding", "start": 38304158, "end": 38305011, "strand": "+", "slug": "c19orf33" }, { "symbol": "KCNK6", "ensemblId": "ENSG00000099337", "biotype": "protein_coding", "start": 38319813, "end": 38333553, "strand": "+", "slug": "kcnk6" }, { "symbol": "CATSPERG", "ensemblId": "ENSG00000099338", "biotype": "protein_coding", "start": 38335775, "end": 38370943, "strand": "+", "slug": "catsperg" }, { "symbol": "PSMD8", "ensemblId": "ENSG00000099341", "biotype": "protein_coding", "start": 38374563, "end": 38383850, "strand": "+", "slug": "psmd8" }, { "symbol": "GGN", "ensemblId": "ENSG00000179168", "biotype": "protein_coding", "start": 38384267, "end": 38388274, "strand": "-", "slug": "ggn" }, { "symbol": "SPRED3", "ensemblId": "ENSG00000188766", "biotype": "protein_coding", "start": 38388421, "end": 38399588, "strand": "+", "slug": "spred3" }, { "symbol": "TSLIG3C", "ensemblId": "ENSG00000130244", "biotype": "protein_coding", "start": 38403093, "end": 38409088, "strand": "+", "slug": "tslig3c" }, { "symbol": "RASGRP4", "ensemblId": "ENSG00000171777", "biotype": "protein_coding", "start": 38409051, "end": 38426305, "strand": "-", "slug": "rasgrp4" }, { "symbol": "MAP4K1", "ensemblId": "ENSG00000104814", "biotype": "protein_coding", "start": 38587641, "end": 38619161, "strand": "-", "slug": "map4k1" }, { "symbol": "EIF3K", "ensemblId": "ENSG00000178982", "biotype": "protein_coding", "start": 38619055, "end": 38636959, "strand": "+", "slug": "eif3k" }, { "symbol": "ACTN4", "ensemblId": "ENSG00000130402", "biotype": "protein_coding", "start": 38647515, "end": 38731589, "strand": "+", "slug": "actn4" }, { "symbol": "CAPN12", "ensemblId": "ENSG00000182472", "biotype": "protein_coding", "start": 38730187, "end": 38769904, "strand": "-", "slug": "capn12" }, { "symbol": "LGALS7", "ensemblId": "ENSG00000205076", "biotype": "protein_coding", "start": 38770968, "end": 38773542, "strand": "-", "slug": "lgals7" }, { "symbol": "LGALS7B", "ensemblId": "ENSG00000178934", "biotype": "protein_coding", "start": 38789191, "end": 38791754, "strand": "+", "slug": "lgals7b" }, { "symbol": "LGALS4", "ensemblId": "ENSG00000171747", "biotype": "protein_coding", "start": 38801671, "end": 38813070, "strand": "-", "slug": "lgals4" }, { "symbol": "ECH1", "ensemblId": "ENSG00000104823", "biotype": "protein_coding", "start": 38815415, "end": 38831874, "strand": "-", "slug": "ech1" }, { "symbol": "", "ensemblId": "ENSG00000268083", "biotype": "protein_coding", "start": 38817471, "end": 38840178, "strand": "-" }, { "symbol": "HNRNPL", "ensemblId": "ENSG00000104824", "biotype": "protein_coding", "start": 38836370, "end": 38852347, "strand": "-", "slug": "hnrnpl" }, { "symbol": "RINL", "ensemblId": "ENSG00000187994", "biotype": "protein_coding", "start": 38867830, "end": 38878275, "strand": "-", "slug": "rinl" }, { "symbol": "SIRT2", "ensemblId": "ENSG00000068903", "biotype": "protein_coding", "start": 38878555, "end": 38900501, "strand": "-", "slug": "sirt2" }, { "symbol": "NFKBIB", "ensemblId": "ENSG00000104825", "biotype": "protein_coding", "start": 38899700, "end": 38908893, "strand": "+", "slug": "nfkbib" }, { "symbol": "CCER2", "ensemblId": "ENSG00000262484", "biotype": "protein_coding", "start": 38908980, "end": 38912252, "strand": "-", "slug": "ccer2" }, { "symbol": "SARS2", "ensemblId": "ENSG00000104835", "biotype": "protein_coding", "start": 38915265, "end": 38930779, "strand": "-", "slug": "sars2" }, { "symbol": "", "ensemblId": "ENSG00000269547", "biotype": "protein_coding", "start": 38915404, "end": 38949855, "strand": "-" }, { "symbol": "MRPS12", "ensemblId": "ENSG00000128626", "biotype": "protein_coding", "start": 38930917, "end": 38937406, "strand": "+", "slug": "mrps12" }, { "symbol": "FBXO17", "ensemblId": "ENSG00000269190", "biotype": "protein_coding", "start": 38941401, "end": 38976773, "strand": "-", "slug": "fbxo17" }, { "symbol": "FBXO27", "ensemblId": "ENSG00000161243", "biotype": "protein_coding", "start": 38990714, "end": 39033773, "strand": "-", "slug": "fbxo27" } ], "truncated": false }, "reports": [ { "slug": "congenital-myopathies", "name": "Συγγενείς μυοπάθειες", "diseases": [ { "mondoId": "MONDO:0100150", "name": "Μυοπάθεια που σχετίζεται με το RYR1", "genes": 1, "inheritance": null, "description": "Μυϊκές διαταραχές που οφείλονται σε παραλλαγές του RYR1, συμπεριλαμβανομένης της νόσου κεντρικού πυρήνα και της πολυ-μίνι-πυρηνικής νόσου, με εύρος από ήπια αδυναμία έως σοβαρή συγγενή μυοπάθεια.", "management": "Άτομα με παραλλαγές του RYR1 ενδέχεται να διατρέχουν κίνδυνο κακοήθους υπερθερμίας, γι' αυτό ο αναισθησιολόγος τους θα πρέπει να ενημερώνεται πριν από οποιαδήποτε χειρουργική επέμβαση.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/congenital-myopathies" }, { "slug": "malignant-hyperthermia-susceptibility", "name": "Ευαισθησία σε κακοήθη υπερθερμία", "diseases": [ { "mondoId": "MONDO:0800188", "name": "Ευαισθησία σε κακοήθη υπερθερμία", "genes": 2, "inheritance": "autosomal-dominant", "description": "Μια κληρονομική μυϊκή πάθηση, που οφείλεται κυρίως σε μεταβολές στα γονίδια RYR1 ή CACNA1S, κατά την οποία τα πτητικά αναισθητικά αέρια ή η suxamethonium μπορούν να προκαλέσουν ταχεία αύξηση της θερμοκρασίας του σώματος, μυϊκή ακαμψία και μυϊκή κατάρρευση.", "management": "Όταν ενημερώνετε τον αναισθησιολόγο, μπορεί να χρησιμοποιηθεί αναισθησία χωρίς ενεργοποιητικούς παράγοντες, κάτι που σε μεγάλο βαθμό προλαμβάνει τις αντιδράσεις. Και οι συγγενείς σας ενδέχεται να διατρέχουν κίνδυνο.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 11 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/el/conditions/malignant-hyperthermia-susceptibility" }, { "slug": "myofibrillar-myopathies", "name": "Μυοϊνιδιακές μυοπάθειες", "diseases": [ { "mondoId": "MONDO:0018943", "name": "Μυοϊνιδιακή μυοπάθεια", "genes": 13, "inheritance": null, "description": "Μια ομάδα μυϊκών παθήσεων κατά την οποία η συσταλτική δομή των μυϊκών ινών διασπάται, προκαλούμενη από γονίδια όπως τα DES, CRYAB, MYOT, LDB3, FLNC και BAG3.", "management": "Επειδή η καρδιά συχνά εμπλέκεται, συνιστώνται τακτικοί καρδιολογικοί έλεγχοι (όπως ΗΚΓ και υπερηχοκαρδιογραφία) ακόμη και χωρίς συμπτώματα.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/myofibrillar-myopathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "abnormality-of-the-foot-musculature", "name": "Abnormal foot muscles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-foot-musculature" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-heart-valve-morphology", "name": "Abnormal heart valve morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-heart-valve-morphology" }, { "slug": "abnormal-circulating-creatine-kinase-activity", "name": "Abnormal levels of creatine kinase in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-circulating-creatine-kinase-activity" }, { "slug": "abnormal-pulse-pressure", "name": "Abnormal pulse pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pulse-pressure" }, { "slug": "abnormal-t-wave", "name": "Abnormal T-wave", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-t-wave" }, { "slug": "abnormality-of-masseter-muscle", "name": "Abnormality of masseter muscle", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-masseter-muscle" }, { "slug": "abnormality-of-the-coagulation-cascade", "name": "Abnormality of the coagulation cascade", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-coagulation-cascade" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "abnormal-skeletal-muscle-morphology", "name": "Abnormally shaped muscle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-skeletal-muscle-morphology" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "acute-kidney-injury", "name": "Acute kidney injury", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/acute-kidney-injury" }, { "slug": "acute-hepatic-failure", "name": "Acute liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/acute-hepatic-failure" }, { "slug": "acute-rhabdomyolysis", "name": "Acute rhabdomyolysis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/acute-rhabdomyolysis" }, { "slug": "ankle-flexion-contracture", "name": "Ankle flexion contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ankle-flexion-contracture" }, { "slug": "areflexia-of-lower-limbs", "name": "Areflexia of lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/areflexia-of-lower-limbs" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "axial-muscle-weakness", "name": "Axial muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/axial-muscle-weakness" }, { "slug": "facial-palsy", "name": "Bell's palsy", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/facial-palsy" }, { "slug": "bifid-uvula", "name": "Bifid uvula", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bifid-uvula" }, { "slug": "macrocephaly-at-birth", "name": "Big head present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/macrocephaly-at-birth" }, { "slug": "bilateral-cryptorchidism", "name": "Bilateral cryptorchidism", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-cryptorchidism" }, { "slug": "large-for-gestational-age", "name": "Birth weight > 90th percentile", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/large-for-gestational-age" }, { "slug": "abnormal-bleeding", "name": "Bleeding tendency", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-bleeding" }, { "slug": "rhabdomyolysis", "name": "Breakdown of skeletal muscle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/rhabdomyolysis" }, { "slug": "broad-nasal-tip", "name": "Broad nasal tip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/broad-nasal-tip" }, { "slug": "bulbar-signs", "name": "Bulbar signs", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bulbar-signs" }, { "slug": "cardiomyocyte-mitochondrial-proliferation", "name": "Cardiomyocyte mitochondrial proliferation", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cardiomyocyte-mitochondrial-proliferation" }, { "slug": "central-core-regions-in-muscle-fibers", "name": "Central core regions in muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/central-core-regions-in-muscle-fibers" }, { "slug": "centrally-nucleated-skeletal-muscle-fibers", "name": "Centrally nucleated skeletal muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "cavernous-hemangioma", "name": "Collection of dilated blood vessels that forms mass", "systems": [ "abnormality-of-the-cardiovascular-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cavernous-hemangioma" }, { "slug": "confusion", "name": "Confusion", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/confusion" }, { "slug": "crackles", "name": "Crackles", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/crackles" }, { "slug": "decreased-liver-function", "name": "Decreased liver function", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-liver-function" }, { "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": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency-due-to-muscle-weakness" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "deep-philtrum", "name": "Deep philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/deep-philtrum" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "delayed-gross-motor-development", "name": "Delayed motor skills", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-gross-motor-development" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "delirium", "name": "Delirium", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delirium" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "difficulty-running", "name": "Difficulty running", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/difficulty-running" }, { "slug": "difficulty-climbing-stairs", "name": "Difficulty walking up stairs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/difficulty-climbing-stairs" }, { "slug": "generalized-amyotrophy", "name": "Diffuse skeletal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-amyotrophy" }, { "slug": "congenital-hip-dislocation", "name": "Dislocated hip since birth", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congenital-hip-dislocation" }, { "slug": "disseminated-intravascular-coagulation", "name": "Disseminated intravascular coagulation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/disseminated-intravascular-coagulation" }, { "slug": "distal-upper-limb-muscle-weakness", "name": "Distal upper limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/distal-upper-limb-muscle-weakness" }, { "slug": "vertigo", "name": "Dizziness", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vertigo" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "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": "very-frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "elevated-creatine-kinase-after-exercise", "name": "Elevated creatine kinase after exercise", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-creatine-kinase-after-exercise" }, { "slug": "tachycardia", "name": "Elevated heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/tachycardia" }, { "slug": "emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation", "name": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation" }, { "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": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "lumbar-hyperlordosis", "name": "Excessive inward curvature of lower spine", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lumbar-hyperlordosis" }, { "slug": "exercise-induced-muscle-cramps", "name": "Exercise-induced muscle cramps", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exercise-induced-muscle-cramps" }, { "slug": "exercise-induced-myalgia", "name": "Exercise-induced muscle pain", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exercise-induced-myalgia" }, { "slug": "exercise-induced-rhabdomyolysis", "name": "Exercise-induced rhabdomyolysis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exercise-induced-rhabdomyolysis" }, { "slug": "premature-ventricular-contraction", "name": "Extra heart beat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/premature-ventricular-contraction" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "ophthalmoplegia", "name": "Eye muscle paralysis", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "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": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fatigable-weakness", "name": "Fatigable weakness", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fatigable-weakness" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "breech-presentation", "name": "Feet or buttocks of fetus positioned near opening of uterus", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/breech-presentation" }, { "slug": "fetal-akinesia-sequence", "name": "Fetal akinesia sequence", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/fetal-akinesia-sequence" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fever" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/edema" }, { "slug": "flushing", "name": "Flushing", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flushing" }, { "slug": "frog-leg-posture", "name": "Frog-leg posture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/frog-leg-posture" }, { "slug": "abnormal-respiratory-system-physiology", "name": "Functional respiratory abnormality", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-respiratory-system-physiology" }, { "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": "obligate", "url": "https://dantelabs.com/traits/generalized-muscle-weakness" }, { "slug": "gowers-sign", "name": "Gowers sign", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gowers-sign" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hepatic-encephalopathy", "name": "Hepatic encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hepatic-encephalopathy" }, { "slug": "hypercapnia", "name": "High blood carbon dioxide level", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypercapnia" }, { "slug": "hyperphosphatemia", "name": "High blood phosphate levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperphosphatemia" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "high-output-congestive-heart-failure", "name": "High-output congestive heart failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-output-congestive-heart-failure" }, { "slug": "hip-contracture", "name": "Hip contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hip-contracture" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "hydrops-fetalis", "name": "Hydrops fetalis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/hydrops-fetalis" }, { "slug": "hypertrophied-muscle-fibers", "name": "Hypertrophied muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertrophied-muscle-fibers" }, { "slug": "hyporeflexia-of-upper-limbs", "name": "Hyporeflexia of upper limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyporeflexia-of-upper-limbs" }, { "slug": "dysphonia", "name": "Inability to produce voice sounds", "systems": [ "abnormality-of-the-voice" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysphonia" }, { "slug": "hyperkalemia", "name": "Increased circulating potassium concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperkalemia" }, { "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": "lactic-acidosis", "name": "Increased lactate in body", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lactic-acidosis" }, { "slug": "tachypnea", "name": "Increased respiratory rate or depth of breathing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tachypnea" }, { "slug": "calf-muscle-hypertrophy", "name": "Increased size of calf muscles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/calf-muscle-hypertrophy" }, { "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": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "intermittent-painful-muscle-spasms", "name": "Intermittent painful muscle spasms", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intermittent-painful-muscle-spasms" }, { "slug": "internally-nucleated-skeletal-muscle-fibers", "name": "Internally nucleated skeletal muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/internally-nucleated-skeletal-muscle-fibers" }, { "slug": "intrinsic-hand-muscle-atrophy", "name": "Intrinsic hand muscle atrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intrinsic-hand-muscle-atrophy" }, { "slug": "knee-dislocation", "name": "Knee dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/knee-dislocation" }, { "slug": "kyphoscoliosis", "name": "Kyphoscoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/kyphoscoliosis" }, { "slug": "anhidrosis", "name": "Lack of sweating", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/anhidrosis" }, { "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": "decreased-fetal-movement", "name": "Less than 10 fetal movements in 12 hours", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-fetal-movement" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "hepatic-failure", "name": "Liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hepatic-failure" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-face" }, { "slug": "long-fingers", "name": "Long fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-fingers" }, { "slug": "dolichocephaly", "name": "Long, narrow head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dolichocephaly" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "slug": "hypocalcemia", "name": "Low blood calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypocalcemia" }, { "slug": "hypotension", "name": "Low blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotension" }, { "slug": "low-hanging-columella", "name": "Low hanging columella", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/low-hanging-columella" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "neonatal-hypotonia", "name": "Low muscle tone, in neonatal onset", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/neonatal-hypotonia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "malignant-hyperthermia", "name": "Malignant hyperthermia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/malignant-hyperthermia" }, { "slug": "metabolic-acidosis", "name": "Metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/metabolic-acidosis" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "mildly-elevated-creatine-kinase", "name": "Mildly elevated creatine kinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mildly-elevated-creatine-kinase" }, { "slug": "minicore-myopathy", "name": "Minicore myopathy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/minicore-myopathy" }, { "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": "mixed-respiratory-and-metabolic-acidosis", "name": "Mixed respiratory and metabolic acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/mixed-respiratory-and-metabolic-acidosis" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "multiple-joint-contractures", "name": "Multiple joint contractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/multiple-joint-contractures" }, { "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-fiber-atrophy", "name": "Muscle fiber degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/muscle-fiber-atrophy" }, { "slug": "muscle-stiffness", "name": "Muscle stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "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": "fasciculations", "name": "Muscle twitch", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fasciculations" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "muscular-dystrophy", "name": "Muscular dystrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscular-dystrophy" }, { "slug": "myoglobinuria", "name": "Myoglobinuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myoglobinuria" }, { "slug": "myopathic-facies", "name": "Myopathic facies", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myopathic-facies" }, { "slug": "narrow-face", "name": "Narrow face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/narrow-face" }, { "slug": "narrow-forehead", "name": "Narrow forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/narrow-forehead" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "nausea", "name": "Nausea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nausea" }, { "slug": "necrotizing-myopathy", "name": "Necrotizing myopathy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/necrotizing-myopathy" }, { "slug": "nemaline-bodies", "name": "Nemaline bodies", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nemaline-bodies" }, { "slug": "neonatal-asphyxia", "name": "Neonatal asphyxia", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neonatal-asphyxia" }, { "slug": "neonatal-respiratory-distress", "name": "Neonatal respiratory distress", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/neonatal-respiratory-distress" }, { "slug": "oliguria", "name": "Oliguria", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oliguria" }, { "slug": "external-ophthalmoplegia", "name": "Paralysis or weakness of muscles within or surrounding outer part of eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/external-ophthalmoplegia" }, { "slug": "pelvic-girdle-muscle-weakness", "name": "Pelvic girdle muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pelvic-girdle-muscle-weakness" }, { "slug": "peripheral-axonal-neuropathy", "name": "Peripheral axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy" }, { "slug": "pneumonia", "name": "Pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pneumonia" }, { "slug": "pulmonary-hypoplasia", "name": "Poorly developed lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/pulmonary-hypoplasia" }, { "slug": "progressive-muscle-weakness", "name": "Progressive muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-muscle-weakness" }, { "slug": "prolonged-qt-interval", "name": "Prolonged QT interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-qt-interval" }, { "slug": "protruding-ear", "name": "Prominent ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/protruding-ear" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperlordosis" }, { "slug": "proximal-lower-limb-muscle-weakness", "name": "Proximal lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proximal-lower-limb-muscle-weakness" }, { "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": "proximal-upper-limb-muscle-weakness", "name": "Proximal upper limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proximal-upper-limb-muscle-weakness" }, { "slug": "pyloric-stenosis", "name": "Pyloric stenosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pyloric-stenosis" }, { "slug": "retrognathia", "name": "Receding chin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retrognathia" }, { "slug": "rectus-femoris-muscle-atrophy", "name": "Rectus femoris muscle atrophy", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rectus-femoris-muscle-atrophy" }, { "slug": "recurrent-patellar-dislocation", "name": "Recurrent patellar dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-patellar-dislocation" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "hypocapnia", "name": "Reduced carbon dioxide in the blood", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypocapnia" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "scaphocephaly", "name": "Scaphocephaly", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scaphocephaly" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "severe-postnatal-growth-retardation", "name": "Severe growth delay in children", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/severe-postnatal-growth-retardation" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "micropenis", "name": "Short penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/micropenis" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "sinus-tachycardia", "name": "Sinus tachycardia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sinus-tachycardia" }, { "slug": "small-scrotum", "name": "Smaller than typical growth of scrotum", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/small-scrotum" }, { "slug": "st-segment-depression", "name": "ST segment depression", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/st-segment-depression" }, { "slug": "sternocleidomastoid-amyotrophy", "name": "Sternocleidomastoid amyotrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sternocleidomastoid-amyotrophy" }, { "slug": "supraventricular-tachycardia", "name": "Supraventricular tachycardia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/supraventricular-tachycardia" }, { "slug": "talipes", "name": "Talipes", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/talipes" }, { "slug": "tented-upper-lip-vermilion", "name": "Tented mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion" }, { "slug": "thickened-skin", "name": "Thickened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thickened-skin" }, { "slug": "thin-ribs", "name": "Thin ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thin-ribs" }, { "slug": "thoracic-kyphosis", "name": "Thoracic kyphosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thoracic-kyphosis" }, { "slug": "tibialis-anterior-muscle-atrophy", "name": "Tibialis anterior muscle atrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tibialis-anterior-muscle-atrophy" }, { "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": "muscle-fibrillation", "name": "Twitching", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-fibrillation" }, { "slug": "type-1-and-type-2-muscle-fiber-minicore-regions", "name": "Type 1 and type 2 muscle fiber minicore regions", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/type-1-and-type-2-muscle-fiber-minicore-regions" }, { "slug": "type-1-muscle-fiber-atrophy", "name": "Type 1 muscle fiber atrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/type-1-muscle-fiber-atrophy" }, { "slug": "type-1-muscle-fiber-predominance", "name": "Type 1 muscle fiber predominance", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/type-1-muscle-fiber-predominance" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "ventricular-tachycardia", "name": "Ventricular tachycardia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventricular-tachycardia" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "waddling-gait", "name": "Waddling gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/waddling-gait" }, { "slug": "weak-cry", "name": "Weak cry", "systems": [ "abnormality-of-the-voice" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/weak-cry" }, { "slug": "shoulder-girdle-muscle-weakness", "name": "Weak shoulder muscles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/shoulder-girdle-muscle-weakness" }, { "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": "occasional", "url": "https://dantelabs.com/traits/ophthalmoparesis" }, { "slug": "webbed-neck", "name": "Webbed neck", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/webbed-neck" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": 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