{ "url": "https://dantelabs.com/el/genes/mecp2", "gene": { "slug": "mecp2", "symbol": "MECP2", "name": "methyl-CpG binding protein 2", "hgnc": "HGNC:6990", "summary": null, "location": "Xq28", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "RTT", "MRX16", "MRX79" ], "ensemblId": "ENSG00000169057", "entrezId": 4204, "omim": [ "300005" ], "uniprot": [ "P51608" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 154021573, "end": 154097717, "strand": "-", "ensemblTranscript": "ENST00000453960.7", "refseqTranscript": "NM_001110792.2", "ensemblProtein": "ENSP00000395535.2", "refseqProtein": "NP_001104262.1", "exons": [ { "start": 154021573, "end": 154031450 }, { "start": 154032207, "end": 154032557 }, { "start": 154097604, "end": 154097717 } ], "cds": { "start": 154030367, "end": 154097665 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "X", "start": 153287024, "end": 153363212, "strand": "-" }, "neighbourhood": { "release": "116", "start": 153559645, "end": 154559644, "genes": [ { "symbol": "ATP2B3", "ensemblId": "ENSG00000067842", "biotype": "protein_coding", "start": 153517620, "end": 153582939, "strand": "+", "slug": "atp2b3" }, { "symbol": "CCNQ", "ensemblId": "ENSG00000262919", "biotype": "protein_coding", "start": 153587925, "end": 153600045, "strand": "-", "slug": "ccnq" }, { "symbol": "DUSP9", "ensemblId": "ENSG00000130829", "biotype": "protein_coding", "start": 153642397, "end": 153651326, "strand": "+", "slug": "dusp9" }, { "symbol": "PNCK", "ensemblId": "ENSG00000130822", "biotype": "protein_coding", "start": 153669730, "end": 153689033, "strand": "-", "slug": "pnck" }, { "symbol": "SLC6A8", "ensemblId": "ENSG00000130821", "biotype": "protein_coding", "start": 153687914, "end": 153696591, "strand": "+", "slug": "slc6a8" }, { "symbol": "BCAP31", "ensemblId": "ENSG00000185825", "biotype": "protein_coding", "start": 153698006, "end": 153725957, "strand": "-", "slug": "bcap31" }, { "symbol": "ABCD1", "ensemblId": "ENSG00000101986", "biotype": "protein_coding", "start": 153724495, "end": 153744755, "strand": "+", "slug": "abcd1" }, { "symbol": "PLXNB3", "ensemblId": "ENSG00000198753", "biotype": "protein_coding", "start": 153764179, "end": 153779346, "strand": "+", "slug": "plxnb3" }, { "symbol": "SRPK3", "ensemblId": "ENSG00000184343", "biotype": "protein_coding", "start": 153781001, "end": 153785768, "strand": "+", "slug": "srpk3" }, { "symbol": "IDH3G", "ensemblId": "ENSG00000067829", "biotype": "protein_coding", "start": 153785735, "end": 153794535, "strand": "-", "slug": "idh3g" }, { "symbol": "SSR4", "ensemblId": "ENSG00000180879", "biotype": "protein_coding", "start": 153793516, "end": 153798510, "strand": "+", "slug": "ssr4" }, { "symbol": "PDZD4", "ensemblId": "ENSG00000067840", "biotype": "protein_coding", "start": 153802161, "end": 153830935, "strand": "-", "slug": "pdzd4" }, { "symbol": "L1CAM", "ensemblId": "ENSG00000198910", "biotype": "protein_coding", "start": 153861511, "end": 153886204, "strand": "-", "slug": "l1cam" }, { "symbol": "", "ensemblId": "ENSG00000284987", "biotype": "protein_coding", "start": 153872221, "end": 153909223, "strand": "-" }, { "symbol": "AVPR2", "ensemblId": "ENSG00000126895", "biotype": "protein_coding", "start": 153902531, "end": 153907169, "strand": "+", "slug": "avpr2" }, { "symbol": "ARHGAP4", "ensemblId": "ENSG00000089820", "biotype": "protein_coding", "start": 153907367, "end": 153934999, "strand": "-", "slug": "arhgap4" }, { "symbol": "NAA10", "ensemblId": "ENSG00000102030", "biotype": "protein_coding", "start": 153928799, "end": 153935083, "strand": "-", "slug": "naa10" }, { "symbol": "RENBP", "ensemblId": "ENSG00000102032", "biotype": "protein_coding", "start": 153935269, "end": 153944688, "strand": "-", "slug": "renbp" }, { "symbol": "HCFC1", "ensemblId": "ENSG00000172534", "biotype": "protein_coding", "start": 153946434, "end": 153972427, "strand": "-", "slug": "hcfc1" }, { "symbol": "TMEM187", "ensemblId": "ENSG00000177854", "biotype": "protein_coding", "start": 153972290, "end": 153983194, "strand": "+", "slug": "tmem187" }, { "symbol": "IRAK1", "ensemblId": "ENSG00000184216", "biotype": "protein_coding", "start": 154010501, "end": 154020650, "strand": "-", "slug": "irak1" }, { "symbol": "OPN1LW", "ensemblId": "ENSG00000102076", "biotype": "protein_coding", "start": 154144243, "end": 154159032, "strand": "+", "slug": "opn1lw" }, { "symbol": "OPN1MW", "ensemblId": "ENSG00000268221", "biotype": "protein_coding", "start": 154182596, "end": 154196861, "strand": "+", "slug": "opn1mw" }, { "symbol": "OPN1MW2", "ensemblId": "ENSG00000166160", "biotype": "protein_coding", "start": 154219756, "end": 154233286, "strand": "+", "slug": "opn1mw2" }, { "symbol": "OPN1MW3", "ensemblId": "ENSG00000269433", "biotype": "protein_coding", "start": 154257582, "end": 154271090, "strand": "+", "slug": "opn1mw3" }, { "symbol": "TEX28", "ensemblId": "ENSG00000278057", "biotype": "protein_coding", "start": 154271265, "end": 154295853, "strand": "-", "slug": "tex28" }, { "symbol": "TKTL1", "ensemblId": "ENSG00000007350", "biotype": "protein_coding", "start": 154295795, "end": 154330350, "strand": "+", "slug": "tktl1" }, { "symbol": "FLNA", "ensemblId": "ENSG00000196924", "biotype": "protein_coding", "start": 154348524, "end": 154374643, "strand": "-", "slug": "flna" }, { "symbol": "EMD", "ensemblId": "ENSG00000102119", "biotype": "protein_coding", "start": 154379205, "end": 154381574, "strand": "+", "slug": "emd" }, { "symbol": "RPL10", "ensemblId": "ENSG00000147403", "biotype": "protein_coding", "start": 154389955, "end": 154409168, "strand": "+", "slug": "rpl10" }, { "symbol": "DNASE1L1", "ensemblId": "ENSG00000013563", "biotype": "protein_coding", "start": 154401236, "end": 154412119, "strand": "-", "slug": "dnase1l1" }, { "symbol": "TAFAZZIN", "ensemblId": "ENSG00000102125", "biotype": "protein_coding", "start": 154409456, "end": 154421726, "strand": "+", "slug": "tafazzin" }, { "symbol": "ATP6AP1", "ensemblId": "ENSG00000071553", "biotype": "protein_coding", "start": 154428618, "end": 154436517, "strand": "+", "slug": "atp6ap1" }, { "symbol": "GDI1", "ensemblId": "ENSG00000203879", "biotype": "protein_coding", "start": 154436600, "end": 154443467, "strand": "+", "slug": "gdi1" }, { "symbol": "FAM50A", "ensemblId": "ENSG00000071859", "biotype": "protein_coding", "start": 154444103, "end": 154450655, "strand": "+", "slug": "fam50a" }, { "symbol": "PLXNA3", "ensemblId": "ENSG00000130827", "biotype": "protein_coding", "start": 154458275, "end": 154477779, "strand": "+", "slug": "plxna3" }, { "symbol": "LAGE3", "ensemblId": "ENSG00000196976", "biotype": "protein_coding", "start": 154477598, "end": 154479291, "strand": "-", "slug": "lage3" }, { "symbol": "UBL4A", "ensemblId": "ENSG00000102178", "biotype": "protein_coding", "start": 154483717, "end": 154486661, "strand": "-", "slug": "ubl4a" }, { "symbol": "SLC10A3", "ensemblId": "ENSG00000126903", "biotype": "protein_coding", "start": 154487306, "end": 154490690, "strand": "-", "slug": "slc10a3" }, { "symbol": "FAM3A", "ensemblId": "ENSG00000071889", "biotype": "protein_coding", "start": 154505019, "end": 154516882, "strand": "-", "slug": "fam3a" }, { "symbol": "G6PD", "ensemblId": "ENSG00000160211", "biotype": "protein_coding", "start": 154517825, "end": 154547584, "strand": "-", "slug": "g6pd" }, { "symbol": "IKBKG", "ensemblId": "ENSG00000269335", "biotype": "protein_coding", "start": 154541179, "end": 154568543, "strand": "+", "slug": "ikbkg" } ], "truncated": false }, "reports": [ { "slug": "rett-syndrome", "name": "Σύνδρομο Rett και σχετικές διαταραχές του MECP2", "diseases": [ { "mondoId": "MONDO:0010726", "name": "Σύνδρομο Rett", "genes": 1, "inheritance": "x-linked-dominant", "description": "Νευροαναπτυξιακή διαταραχή που προκαλείται από παραλλαγές του MECP2, συνήθως νέες (de novo), με υποχώρηση των δεξιοτήτων λόγου και χεριών, στερεότυπες κινήσεις των χεριών, αναπνευστικές ανωμαλίες και σπασμούς.", "management": "Πολυκλινική φροντίδα, συμπεριλαμβανομένης της αντιμετώπισης των σπασμών, των αναπνευστικών προβλημάτων, της σκολίωσης και της διατροφής· η τροφινετίδη έχει εγκριθεί από τον FDA για το σύνδρομο Rett.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0010283", "name": "Σύνδρομο διπλασιασμού του MECP2 (Νοητική αναπηρία συνδεδεμένη με το X τύπου Lubs)", "genes": 1, "inheritance": "x-linked-recessive", "description": "Διαταραχή συνδεδεμένη με το X, που επηρεάζει κυρίως τα αγόρια και προκαλείται από διπλασιασμό του MECP2, με νοητική αναπηρία, χαμηλό μυϊκό τόνο, σπασμούς και επανειλημμένες λοιμώξεις.", "management": "Αντιμετώπιση σπασμών και λοιμώξεων και γενετική συμβουλευτική για τις μητέρες, που συχνά είναι φορείς χωρίς συμπτώματα.", "evidence": { "gencc": [ "G2P" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0010397", "name": "Σοβαρή νεογνική εγκεφαλοπάθεια με μικροκεφαλία (MECP2)", "genes": 1, "inheritance": null, "description": "Σοβαρή εγκεφαλοπάθεια με πρώιμη έναρξη στα αγόρια, που προκαλείται από παραλλαγές του MECP2, με μικρό μέγεθος κεφαλής, αναπνευστικά προβλήματα και σπασμούς.", "management": null, "evidence": { "gencc": [ "G2P" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/rett-syndrome" }, { "slug": "epilepsy-report", "name": "Επιληψία (Πλήρες Πάνελ)", "diseases": [ { "mondoId": "MONDO:0005027", "name": "Επιληψία", "genes": 171, "inheritance": null, "description": "Εγκεφαλική διαταραχή που χαρακτηρίζεται από επεισόδια παθολογικά αυξημένης νευρωνικής εκφόρτισης, που έχουν ως αποτέλεσμα παροδικά επεισόδια αισθητηριακής ή κινητικής νευρολογικής δυσλειτουργίας ή ψυχικής δυσλειτουργίας. Τα επεισόδια αυτά μπορεί να σχετίζονται ή να μην σχετίζονται με απώλεια συνείδησης ή σπασμούς.", "management": null, "evidence": { "gencc": [ "G2P" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/el/conditions/epilepsy-report" }, { "slug": "intellectual-disability", "name": "Νοητική αναπηρία", "diseases": [ { "mondoId": "MONDO:0001071", "name": "νοητική αναπηρία", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "G2P" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/el/conditions/intellectual-disability" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-autonomic-nervous-system-physiology", "name": "Abnormal autonomic nervous system physiology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology" }, { "slug": "abnormal-pigmentation-of-the-oral-mucosa", "name": "Abnormal color of the oral mucosa", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-pigmentation-of-the-oral-mucosa" }, { "slug": "abnormal-csf-pyruvate-family-amino-acid-concentration", "name": "Abnormal CSF pyruvate family amino acid concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-csf-pyruvate-family-amino-acid-concentration" }, { "slug": "abnormality-of-the-dentition", "name": "Abnormal dentition", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/abnormality-of-the-dentition" }, { "slug": "abnormal-fear-induced-behavior", "name": "Abnormal fear-induced behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-fear-induced-behavior" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-muscle-tone", "name": "Abnormal muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-muscle-tone" }, { "slug": "abnormal-pattern-of-respiration", "name": "Abnormal pattern of respiration", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-pattern-of-respiration" }, { "slug": "abnormal-speech-pattern", "name": "Abnormal speech pattern", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-speech-pattern" }, { "slug": "abnormal-t-wave", "name": "Abnormal T-wave", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/abnormal-t-wave" }, { "slug": "abnormality-of-chromosome-segregation", "name": "Abnormality of chromosome segregation", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-chromosome-segregation" }, { "slug": "abnormality-of-movement", "name": "Abnormality of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-movement" }, { "slug": "abnormality-of-salivation", "name": "Abnormality of salivation", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-salivation" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "agitation", "name": "Agitation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/agitation" }, { "slug": "anorexia", "name": "Anorexia", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/anorexia" }, { "slug": "anti-complement-component-c1q-antibody-positivity", "name": "Anti-complement component C1q antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anti-complement-component-c1q-antibody-positivity" }, { "slug": "anti-dsdna-antibody-positivity", "name": "Anti-dsDNA antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anti-dsdna-antibody-positivity" }, { "slug": "anti-la-ss-b-antibody-positivity", "name": "Anti-La/SS-B antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anti-la-ss-b-antibody-positivity" }, { "slug": "anti-nucleoporin-62-antibody-positivity", "name": "Anti-nucleoporin 62 antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anti-nucleoporin-62-antibody-positivity" }, { "slug": "anti-phosphatidic-acid-antibody-positivity", "name": "Anti-phosphatidic acid antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anti-phosphatidic-acid-antibody-positivity" }, { "slug": "anti-ribosome-po-antibody-positivity", "name": "Anti-ribosome Po antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anti-ribosome-po-antibody-positivity" }, { "slug": "anti-ro52-trim21-antibody-positivity", "name": "Anti-Ro52/TRIM21 antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anti-ro52-trim21-antibody-positivity" }, { "slug": "anti-sm-antibody-positivity", "name": "Anti-Sm antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anti-sm-antibody-positivity" }, { "slug": "anti-titin-antibody-positivity", "name": "Anti-titin antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anti-titin-antibody-positivity" }, { "slug": "anti-u1-ribonucleoprotein-antibody-positivity", "name": "Anti-U1 ribonucleoprotein antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anti-u1-ribonucleoprotein-antibody-positivity" }, { "slug": "antineutrophil-antibody-positivity", "name": "Antineutrophil antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/antineutrophil-antibody-positivity" }, { "slug": "antinuclear-antibody-positivity", "name": "Antinuclear antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "apnea", "name": "Apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/apnea" }, { "slug": "apraxia", "name": "Apraxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/apraxia" }, { "slug": "arthritis", "name": "Arthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arthritis" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "autism", "name": "Autism", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/autism" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "bipolar-affective-disorder", "name": "Bipolar disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bipolar-affective-disorder" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "anger", "name": "Boiling mad", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/anger" }, { "slug": "generalized-non-motor-absence-seizure", "name": "Brief seizures with staring spells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure" }, { "slug": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/brachycephaly" }, { "slug": "emotional-lability", "name": "Can't control feelings", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emotional-lability" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "central-hypoventilation", "name": "Central hypoventilation", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/central-hypoventilation" }, { "slug": "chorea", "name": "Chorea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/chorea" }, { "slug": "choreoathetosis", "name": "Choreoathetosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/choreoathetosis" }, { "slug": "chronic-constipation", "name": "Chronic constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-constipation" }, { "slug": "coldness", "name": "Coldness", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coldness" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "cerebral-cortical-atrophy", "name": "Decrease in size of the outer layer of the brain due to loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy" }, { "slug": "decreased-total-leukocyte-count", "name": "Decreased blood leukocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count" }, { "slug": "decreased-body-weight", "name": "Decreased body weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-body-weight" }, { "slug": "decreased-circulating-complement-c3-concentration", "name": "Decreased circulating complement C3 concentration", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-complement-c3-concentration" }, { "slug": "decreased-circulating-complement-c4-concentration", "name": "Decreased circulating complement C4 concentration", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-complement-c4-concentration" }, { "slug": "facial-hypotonia", "name": "Decreased facial muscle tone", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/facial-hypotonia" }, { "slug": "male-hypogonadism", "name": "Decreased function of male gonad", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/male-hypogonadism" }, { "slug": "floppy-infant", "name": "Decreased muscle tone in infant", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/floppy-infant" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "delayed-ability-to-roll-over", "name": "Delayed ability to roll over", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-roll-over" }, { "slug": "delayed-ability-to-sit", "name": "Delayed ability to sit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-ability-to-sit" }, { "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-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/delayed-skeletal-maturation" }, { "slug": "delayed-gross-motor-development", "name": "Delayed motor skills", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "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": "obligate", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depression" }, { "slug": "secondary-microcephaly", "name": "Development of small head that was not present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/secondary-microcephaly" }, { "slug": "developmental-stagnation", "name": "Developmental stagnation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/developmental-stagnation" }, { "slug": "sleep-disturbance", "name": "Difficulty sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sleep-disturbance" }, { "slug": "discoid-lupus-rash", "name": "Discoid lupus rash", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/discoid-lupus-rash" }, { "slug": "disturbance-of-facial-expression", "name": "Disturbance of facial expression", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/disturbance-of-facial-expression" }, { "slug": "drooling", "name": "Drooling", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/drooling" }, { "slug": "everted-lower-lip-vermilion", "name": "Drooping lower lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/everted-lower-lip-vermilion" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "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": "eeg-abnormality", "name": "EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/eeg-abnormality" }, { "slug": "eeg-with-focal-slow-activity", "name": "EEG with focal slow activity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eeg-with-focal-slow-activity" }, { "slug": "eeg-with-generalized-slow-activity", "name": "EEG with generalized slow activity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eeg-with-generalized-slow-activity" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "gynecomastia", "name": "Enlarged male breast", "systems": [ "abnormality-of-the-breast" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gynecomastia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "episodic-tachypnea", "name": "Episodic tachypnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/episodic-tachypnea" }, { "slug": "excessive-salivation", "name": "Excessive salivation", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/excessive-salivation" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "very-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" ], "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fever" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "focal-eeg-discharges-with-secondary-generalization", "name": "Focal EEG discharges with secondary generalization", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-eeg-discharges-with-secondary-generalization" }, { "slug": "functional-abnormality-of-the-gastrointestinal-tract", "name": "Functional abnormality of the gastrointestinal tract", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/functional-abnormality-of-the-gastrointestinal-tract" }, { "slug": "functional-motor-deficit", "name": "Functional motor deficit", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/functional-motor-deficit" }, { "slug": "pectus-excavatum", "name": "Funnel chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pectus-excavatum" }, { "slug": "gait-apraxia", "name": "Gait apraxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gait-apraxia" }, { "slug": "cholecystitis", "name": "Gallbladder inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cholecystitis" }, { "slug": "gastrostomy-tube-feeding-in-infancy", "name": "Gastrostomy tube feeding in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastrostomy-tube-feeding-in-infancy" }, { "slug": "generalized-neonatal-hypotonia", "name": "Generalized low muscle tone in neonate", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-neonatal-hypotonia" }, { "slug": "generalized-myoclonic-seizure", "name": "Generalized myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "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": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "hand-apraxia", "name": "Hand apraxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hand-apraxia" }, { "slug": "hemolytic-anemia", "name": "Hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemolytic-anemia" }, { "slug": "hernia-of-the-abdominal-wall", "name": "Hernia of the abdominal wall", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hernia-of-the-abdominal-wall" }, { "slug": "hyperammonemia", "name": "High blood ammonia levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperammonemia" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "pyuria", "name": "High urine neutrophil count", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pyuria" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "high-pitched-cry", "name": "High-pitched cry", "systems": [ "abnormality-of-the-voice" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/high-pitched-cry" }, { "slug": "increased-circulating-lactate-concentration", "name": "Higher than normal levels of lactate in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "hyperactive-deep-tendon-reflexes", "name": "Hyperactive deep tendon reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperactive-deep-tendon-reflexes" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "impaired-pain-sensation", "name": "Impaired pain sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-pain-sensation" }, { "slug": "abnormal-nonverbal-communicative-behavior", "name": "Impaired use of nonverbal behaviors", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-nonverbal-communicative-behavior" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "mutism", "name": "Inability to speak", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mutism" }, { "slug": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "inappropriate-crying", "name": "Inappropriate crying", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/inappropriate-crying" }, { "slug": "inappropriate-laughter", "name": "Inappropriate laughter", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/inappropriate-laughter" }, { "slug": "increased-circulating-pyruvate-concentration", "name": "Increased circulating pyruvate concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration" }, { "slug": "increased-csf-lactate", "name": "Increased CSF lactate", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-csf-lactate" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "increased-serum-leptin", "name": "Increased serum leptin", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-serum-leptin" }, { "slug": "increased-serum-serotonin", "name": "Increased serum serotonin", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-serum-serotonin" }, { "slug": "infantile-spasms", "name": "Infantile spasms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/infantile-spasms" }, { "slug": "cheilitis", "name": "Inflammation of the lips", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cheilitis" }, { "slug": "inflexible-adherence-to-routines", "name": "Inflexible adherence to routines", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/inflexible-adherence-to-routines" }, { "slug": "truncal-ataxia", "name": "Instability or lack of coordination of central trunk muscles", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/truncal-ataxia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "intermittent-hyperventilation", "name": "Intermittent overbreathing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intermittent-hyperventilation" }, { "slug": "involuntary-movements", "name": "Involuntary movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/involuntary-movements" }, { "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": "moderate-intellectual-disability", "name": "IQ between 34 and 49", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/moderate-intellectual-disability" }, { "slug": "profound-intellectual-disability", "name": "IQ less than 20", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/profound-intellectual-disability" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "joint-stiffness", "name": "Joint stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/joint-stiffness" }, { "slug": "juvenile-cataract", "name": "Juvenile cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/juvenile-cataract" }, { "slug": "kyphoscoliosis", "name": "Kyphoscoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kyphoscoliosis" }, { "slug": "lack-of-peer-relationships", "name": "Lack of peer relationships", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/lack-of-peer-relationships" }, { "slug": "lack-of-spontaneous-play", "name": "Lack of spontaneous play", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/lack-of-spontaneous-play" }, { "slug": "macrotia", "name": "Large ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrotia" }, { "slug": "macroorchidism", "name": "Large testis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macroorchidism" }, { "slug": "limb-apraxia", "name": "Limb apraxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-apraxia" }, { "slug": "limb-myoclonus", "name": "Limb myoclonus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-myoclonus" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "loss-of-ambulation", "name": "Loss of ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "slug": "loss-of-acquired-purposeful-hand-skills", "name": "Loss of acquired purposeful hand skills", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/loss-of-acquired-purposeful-hand-skills" }, { "slug": "loss-of-acquired-spoken-language", "name": "Loss of acquired spoken language", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/loss-of-acquired-spoken-language" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "loss-of-speech", "name": "Loss of speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/loss-of-speech" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "neonatal-hypotonia", "name": "Low muscle tone, in neonatal onset", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neonatal-hypotonia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "lupus-nephritis", "name": "Lupus nephritis", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lupus-nephritis" }, { "slug": "malaise", "name": "Malaise", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/malaise" }, { "slug": "malar-rash", "name": "Malar rash", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/malar-rash" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "hyperactivity", "name": "More active than typical", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperactivity" }, { "slug": "polymicrogyria", "name": "More grooves in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polymicrogyria" }, { "slug": "oral-ulcer", "name": "Mouth sore", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oral-ulcer" }, { "slug": "multifocal-epileptiform-discharges", "name": "Multifocal epileptiform discharges", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/multifocal-epileptiform-discharges" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "blepharophimosis", "name": "Narrow opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/blepharophimosis" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "neonatal-seizure", "name": "Neonatal seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neonatal-seizure" }, { "slug": "retinopathy", "name": "Noninflammatory retina disease", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/retinopathy" }, { "slug": "obesity", "name": "Obesity", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/obesity" }, { "slug": "lower-limb-hyperreflexia", "name": "Overactive lower leg reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia" }, { "slug": "pain-insensitivity", "name": "Pain insensitivity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pain-insensitivity" }, { "slug": "panic-attack", "name": "Panic attack", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/panic-attack" }, { "slug": "parkinsonism", "name": "Parkinsonism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/parkinsonism" }, { "slug": "persistent-head-lag", "name": "Persistent head lag", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/persistent-head-lag" }, { "slug": "cutaneous-photosensitivity", "name": "Photosensitive skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cutaneous-photosensitivity" }, { "slug": "pill-rolling-tremor", "name": "Pill-rolling tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pill-rolling-tremor" }, { "slug": "polyarticular-arthritis", "name": "Polyarticular arthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/polyarticular-arthritis" }, { "slug": "reduced-eye-contact", "name": "Poor eye contact", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-eye-contact" }, { "slug": "reduced-social-responsiveness", "name": "Poor social interactions", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-social-responsiveness" }, { "slug": "poor-suck", "name": "Poor suck", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-suck" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "motor-deterioration", "name": "Progressive degeneration of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-deterioration" }, { "slug": "progressive-language-deterioration", "name": "Progressive language deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-language-deterioration" }, { "slug": "progressive-spasticity", "name": "Progressive spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/progressive-spasticity" }, { "slug": "progressive-microcephaly", "name": "Progressively abnormally small cranium", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-microcephaly" }, { "slug": "prolonged-qtc-interval", "name": "Prolonged QTc interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/prolonged-qtc-interval" }, { "slug": "prominent-nasal-bridge", "name": "Prominent nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-nasal-bridge" }, { "slug": "psychosis", "name": "Psychosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/psychosis" }, { "slug": "raynaud-phenomenon", "name": "Raynaud phenomenon", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/raynaud-phenomenon" }, { "slug": "recurrent-hand-flapping", "name": "Recurrent hand flapping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/recurrent-hand-flapping" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "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": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "repetitive-compulsive-behavior", "name": "Repetitive compulsive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/repetitive-compulsive-behavior" }, { "slug": "motor-stereotypy", "name": "Repetitive movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/motor-stereotypy" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "resting-tremor", "name": "Resting tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/resting-tremor" }, { "slug": "restlessness", "name": "Restlessness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/restlessness" }, { "slug": "restrictive-behavior", "name": "Restrictive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/restrictive-behavior" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "serositis", "name": "Serositis", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/serositis" }, { "slug": "severe-global-developmental-delay", "name": "Severe global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-global-developmental-delay" }, { "slug": "severe-infection", "name": "Severe infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-infection" }, { "slug": "short-foot", "name": "Short foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-foot" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "shuffling-gait", "name": "Shuffled walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/shuffling-gait" }, { "slug": "bradykinesia", "name": "Slow movements", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bradykinesia" }, { "slug": "small-hand", "name": "Small hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/small-hand" }, { "slug": "primary-microcephaly", "name": "Small head present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/primary-microcephaly" }, { "slug": "spastic-paraplegia", "name": "Spastic paraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spastic-paraplegia" }, { "slug": "spastic-tetraplegia", "name": "Spastic tetraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spastic-tetraplegia" }, { "slug": "spastic-gait", "name": "Spastic walk", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spastic-gait" }, { "slug": "stereotypical-hand-wringing", "name": "Stereotypical hand wringing", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/stereotypical-hand-wringing" }, { "slug": "stooped-posture", "name": "Stooped posture", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/stooped-posture" }, { "slug": "stroke", "name": "Stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/stroke" }, { "slug": "sudden-episodic-apnea", "name": "Sudden episodic apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sudden-episodic-apnea" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lymphadenopathy" }, { "slug": "bruxism", "name": "Teeth grinding", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bruxism" }, { "slug": "tented-upper-lip-vermilion", "name": "Tented mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion" }, { "slug": "tongue-thrusting", "name": "Tongue thrusting", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tongue-thrusting" }, { "slug": "tonic-seizure", "name": "Tonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tonic-seizure" }, { "slug": "total-ophthalmoplegia", "name": "Total ophthalmoplegia", "systems": [ "abnormality-of-the-eye" ], "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": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "upslanted-palpebral-fissure", "name": "Upward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure" }, { "slug": "cachexia", "name": "Wasting syndrome", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/cachexia" }, { "slug": 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