{ "url": "https://dantelabs.com/hu/genes/mks1", "gene": { "slug": "mks1", "symbol": "MKS1", "name": "MKS transition zone complex subunit 1", "hgnc": "HGNC:7121", "summary": null, "location": "17q22", "locusType": "gene with protein product", "aliases": [ "FLJ20345", "POC12", "BBS13" ], "previousSymbols": [ "MKS" ], "ensemblId": "ENSG00000011143", "entrezId": 54903, "omim": [ "609883" ], "uniprot": [ "Q9NXB0" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 58205441, "end": 58219255, "strand": "-", "ensemblTranscript": "ENST00000393119.7", "refseqTranscript": "NM_017777.4", "ensemblProtein": "ENSP00000376827.2", "refseqProtein": "NP_060247.2", "exons": [ { "start": 58205441, "end": 58206170 }, { "start": 58206283, "end": 58206380 }, { "start": 58206465, "end": 58206547 }, { "start": 58207085, "end": 58207218 }, { "start": 58207894, "end": 58208001 }, { "start": 58208105, "end": 58208174 }, { "start": 58208513, "end": 58208583 }, { "start": 58210659, "end": 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58353671, "end": 58417735, "strand": "-", "slug": "rnf43" }, { "symbol": "HSF5", "ensemblId": "ENSG00000176160", "biotype": "protein_coding", "start": 58420167, "end": 58488408, "strand": "-", "slug": "hsf5" }, { "symbol": "MTMR4", "ensemblId": "ENSG00000108389", "biotype": "protein_coding", "start": 58489529, "end": 58517905, "strand": "-", "slug": "mtmr4" }, { "symbol": "SEPTIN4", "ensemblId": "ENSG00000108387", "biotype": "protein_coding", "start": 58519969, "end": 58544368, "strand": "-", "slug": "septin4" }, { "symbol": "TEX14", "ensemblId": "ENSG00000121101", "biotype": "protein_coding", "start": 58556678, "end": 58692055, "strand": "-", "slug": "tex14" }, { "symbol": "IGBP1C", "ensemblId": "ENSG00000266826", "biotype": "protein_coding", "start": 58660424, "end": 58692055, "strand": "-", "slug": "igbp1c" }, { "symbol": "RAD51C", "ensemblId": "ENSG00000108384", "biotype": "protein_coding", "start": 58692569, "end": 58735611, "strand": "+", "slug": "rad51c" } ], "truncated": false }, "reports": [ { "slug": "bardet-biedl-and-alstrom-syndromes", "name": "Bardet-Biedl and Alström Syndromes", "diseases": [ { "mondoId": "MONDO:0015229", "name": "Bardet-Biedl syndrome", "genes": 22, "inheritance": "autosomal-recessive", "description": "A recessive ciliopathy caused by variants in more than 20 genes (most often BBS1 and BBS10) that causes retinal dystrophy, obesity, extra fingers or toes, kidney anomalies and learning difficulties.", "management": "Diagnosis allows eye, kidney and diabetes surveillance, and setmelanotide is an approved treatment for obesity in Bardet-Biedl syndrome.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/bardet-biedl-and-alstrom-syndromes" }, { "slug": "joubert-syndrome-and-related-disorders", "name": "Joubert Syndrome And Related Disorders", "diseases": [ { "mondoId": "MONDO:0015369", "name": "Joubert Syndrome And Related Disorders", "genes": 12, "inheritance": "autosomal-recessive", "description": "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the \"molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false }, { "mondoId": "MONDO:0018772", "name": "Joubert Syndrome", "genes": 37, "inheritance": null, "description": "A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/joubert-syndrome-and-related-disorders" }, { "slug": "meckel-syndrome", "name": "Meckel Syndrome", "diseases": [ { "mondoId": "MONDO:0018921", "name": "Meckel Syndrome", "genes": 10, "inheritance": "autosomal-recessive", "description": "A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "Myriad Women's Health" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/meckel-syndrome" }, { "slug": "autosomal-recessive-cerebellar-ataxias", "name": "Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)", "diseases": [ { "mondoId": "MONDO:0015244", "name": "Autosomal Recessive Cerebellar Ataxia", "genes": 57, "inheritance": "autosomal-recessive", "description": "A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.", "management": "Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/hu/conditions/autosomal-recessive-cerebellar-ataxias" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Inherited Neurodegenerative Disorders", "diseases": [ { "mondoId": "MONDO:0024237", "name": "KIF5A-Related Neurodegenerative Disorder", "genes": 372, "inheritance": "autosomal-dominant", "description": "Caused by changes in one copy of KIF5A, which encodes a motor protein with a cargo-binding tail. Different types of change lead to different conditions: hereditary spastic paraplegia type 10, an axonal form of Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis (ALS).", "management": "Care is symptomatic and depends on the presentation, including physiotherapy, antispasticity medicines and multidisciplinary ALS care. Each child of an affected person has a 1 in 2 chance of inheriting the change; genetic counselling helps families understand this.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/hu/conditions/inherited-neurodegenerative-disorders-selected-genes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cardiac-septum-morphology", "name": "Abnormal cardiac septum morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/abnormal-cardiac-septum-morphology" }, { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "abnormal-chorioretinal-morphology", "name": "Abnormal chorioretinal morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-chorioretinal-morphology" }, { "slug": "color-vision-defect", "name": "Abnormal color vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/color-vision-defect" }, { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "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": "occasional", "url": "https://dantelabs.com/traits/abnormal-speech-pattern" }, { "slug": "abnormal-vertebral-body-morphology", "name": "Abnormal vertebral body morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology" }, { "slug": "abnormal-vertebral-morphology", "name": "Abnormal vertebral morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-vertebral-morphology" }, { "slug": "abnormality-of-neuronal-migration", "name": "Abnormality of neuronal migration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration" }, { "slug": "abnormality-of-the-endocrine-system", "name": "Abnormality of the endocrine system", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-endocrine-system" }, { "slug": "abnormality-of-the-gastrointestinal-tract", "name": "Abnormality of the gastrointestinal tract", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-gastrointestinal-tract" }, { "slug": "abnormality-of-the-genitourinary-system", "name": "Abnormality of the genitourinary system", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system" }, { "slug": "abnormal-heart-morphology", "name": "Abnormality of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-heart-morphology" }, { "slug": "abnormality-of-the-hypothalamus-pituitary-axis", "name": "Abnormality of the hypothalamus-pituitary axis", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-hypothalamus-pituitary-axis" }, { "slug": "abnormality-of-the-larynx", "name": "Abnormality of the larynx", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/abnormality-of-the-larynx" }, { "slug": "abnormal-oral-cavity-morphology", "name": "Abnormality of the oral cavity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-oral-cavity-morphology" }, { "slug": "abnormality-of-the-sense-of-smell", "name": "Abnormality of the sense of smell", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-sense-of-smell" }, { "slug": "abnormality-of-the-ureter", "name": "Abnormality of the ureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/abnormality-of-the-ureter" }, { "slug": "abnormality-of-the-uterus", "name": "Abnormality of the uterus", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/abnormality-of-the-uterus" }, { "slug": "hypotelorism", "name": "Abnormally close eyes", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/hypotelorism" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "anophthalmia", "name": "Absence of eyeballs", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anophthalmia" }, { "slug": "anal-atresia", "name": "Absent anus", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/anal-atresia" }, { "slug": "renal-agenesis", "name": "Absent kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/renal-agenesis" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "asplenia", "name": "Absent spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/asplenia" }, { "slug": "aplasia-hypoplasia-of-the-iris", "name": "Absent/small iris", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-iris" }, { "slug": "aplasia-hypoplasia-of-the-vagina", "name": "Absent/small vagina", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-vagina" }, { "slug": "accessory-spleen", "name": "Accessory spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/accessory-spleen" }, { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "situs-inversus-totalis", "name": "All organs on wrong side of body", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/situs-inversus-totalis" }, { "slug": "ambiguous-genitalia", "name": "Ambiguous external genitalia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ambiguous-genitalia" }, { "slug": "ambiguous-genitalia-male", "name": "Ambiguous genitalia in males", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/ambiguous-genitalia-male" }, { "slug": "anencephaly", "name": "Anencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anencephaly" }, { "slug": "vascular-dilatation", "name": "Aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/vascular-dilatation" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "aplasia-hypoplasia-of-the-corpus-callosum", "name": "Aplasia/Hypoplasia of the corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum" }, { "slug": "aplasia-hypoplasia-of-the-tongue", "name": "Aplasia/Hypoplasia of the tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-tongue" }, { "slug": "apnea", "name": "Apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/apnea" }, { "slug": "asthma", "name": "Asthma", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/asthma" }, { "slug": "astigmatism", "name": "Astigmatism", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/astigmatism" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "ambiguous-genitalia-female", "name": "Atypical appearance of female genitals", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/ambiguous-genitalia-female" }, { "slug": "autism", "name": "Autism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/autism" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "bile-duct-proliferation", "name": "Bile duct proliferation", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/bile-duct-proliferation" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "insulin-resistance", "name": "Body fails to respond to insulin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/insulin-resistance" }, { "slug": "natal-tooth", "name": "Born with teeth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/natal-tooth" }, { "slug": "bowing-of-the-long-bones", "name": "Bowing of the long bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bowing-of-the-long-bones" }, { "slug": "occipital-encephalocele", "name": "Brain tissue sticks out through back of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/occipital-encephalocele" }, { "slug": "retinal-dystrophy", "name": "Breakdown of light-sensitive cells in back of eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/retinal-dystrophy" }, { "slug": "nasal-dysarthria", "name": "Breathy speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nasal-dysarthria" }, { "slug": "broad-forehead", "name": "Broad forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/broad-forehead" }, { "slug": "enlarged-naris", "name": "Broad nostril", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/enlarged-naris" }, { "slug": "lobulated-tongue", "name": "Bumpy tongue", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/lobulated-tongue" }, { "slug": "emotional-lability", "name": "Can't control feelings", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emotional-lability" }, { "slug": "iris-coloboma", "name": "Cat eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/iris-coloboma" }, { "slug": "celiac-disease", "name": "Celiac disease", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/celiac-disease" }, { "slug": "cerebellar-vermis-hypoplasia", "name": "Cerebellar vermis hypoplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia" }, { "slug": "chiari-malformation", "name": "Chiari malformation", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/chiari-malformation" }, { "slug": "childhood-onset-truncal-obesity", "name": "Childhood-onset truncal obesity", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/childhood-onset-truncal-obesity" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "orofacial-cleft", "name": "Cleft of the mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/orofacial-cleft" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "cone-cone-rod-dystrophy", "name": "Cone/cone-rod dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cone-cone-rod-dystrophy" }, { "slug": "microcornea", "name": "Cornea of eye less than 10mm in diameter", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcornea" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "clinodactyly", "name": "Curvature of digit", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/clinodactyly" }, { "slug": "fifth-finger-distal-phalanx-clinodactyly", "name": "Curvature of outermost bone of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/fifth-finger-distal-phalanx-clinodactyly" }, { "slug": "cystic-liver-disease", "name": "Cystic liver disease", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cystic-liver-disease" }, { "slug": "dandy-walker-malformation", "name": "Dandy-Walker malformation", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dandy-walker-malformation" }, { "slug": "hypogonadism", "name": "Decreased activity of gonads", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypogonadism" }, { "slug": "decreased-circulating-hdl-c-concentration", "name": "Decreased circulating high-density lipoprotein cholesterol", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-hdl-c-concentration" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "microdontia", "name": "Decreased size of tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microdontia" }, { "slug": "decreased-testicular-size", "name": "Decreased testicular size", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-testicular-size" }, { "slug": "biparietal-narrowing", "name": "Decreased width of the skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/biparietal-narrowing" }, { "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-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dental-crowding", "name": "Dental crowding", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dental-crowding" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depression" }, { "slug": "nyctalopia", "name": "Difficulties with night vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nyctalopia" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dilated-fourth-ventricle", "name": "Dilated fourth ventricle", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dilated-fourth-ventricle" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "ureteral-duplication", "name": "Double ureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ureteral-duplication" }, { "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": "occasional", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "foot-polydactyly", "name": "Duplication of bones of the toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/foot-polydactyly" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "elevated-amniotic-fluid-alpha-fetoprotein-concentration", "name": "Elevated amniotic fluid alpha-fetoprotein concentration", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/elevated-amniotic-fluid-alpha-fetoprotein-concentration" }, { "slug": "encephalocele", "name": "Encephalocele", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/encephalocele" }, { "slug": "aganglionic-megacolon", "name": "Enlarged colon lacking nerve cells", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aganglionic-megacolon" }, { "slug": "epicanthus-inversus", "name": "Epicanthus inversus", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epicanthus-inversus" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "episodic-tachypnea", "name": "Episodic tachypnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/episodic-tachypnea" }, { "slug": "congenital-hepatic-fibrosis", "name": "Excessive buildup of connective tissue and scarring of liver at birth", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/congenital-hepatic-fibrosis" }, { "slug": "generalized-hirsutism", "name": "Excessive hairiness over body", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-hirsutism" }, { "slug": "hand-polydactyly", "name": "Extra finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hand-polydactyly" }, { "slug": "postaxial-hand-polydactyly", "name": "Extra little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/postaxial-hand-polydactyly" }, { "slug": "preaxial-hand-polydactyly", "name": "Extra thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/preaxial-hand-polydactyly" }, { "slug": "postaxial-foot-polydactyly", "name": "Extra toe attached near the little toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/postaxial-foot-polydactyly" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "hypodontia", "name": "Failure of development of between one and six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypodontia" }, { "slug": "hepatic-steatosis", "name": "Fatty infiltration of liver", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatic-steatosis" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "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" ], "url": "https://dantelabs.com/traits/breech-presentation" }, { "slug": "finger-syndactyly", "name": "Finger syndactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/finger-syndactyly" }, { "slug": "depressed-nasal-ridge", "name": "Flat nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depressed-nasal-ridge" }, { "slug": "full-cheeks", "name": "Full cheeks", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/full-cheeks" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "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": "furrowed-tongue", "name": "Grooved tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/furrowed-tongue" }, { "slug": "sclerocornea", "name": "Hardening of skin and connective tissue", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sclerocornea" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "dextrocardia", "name": "Heart tip and four chambers point towards right side of body", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dextrocardia" }, { "slug": "hepatic-fibrosis", "name": "Hepatic fibrosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatic-fibrosis" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "highly-arched-eyebrow", "name": "Highly arched eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/highly-arched-eyebrow" }, { "slug": "retinal-coloboma", "name": "Hole in the back of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-coloboma" }, { "slug": "horseshoe-kidney", "name": "Horseshoe kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/horseshoe-kidney" }, { "slug": "hydrometrocolpos", "name": "Hydrometrocolpos", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydrometrocolpos" }, { "slug": "hydronephrosis", "name": "Hydronephrosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydronephrosis" }, { "slug": "impaired-fasting-glucose", "name": "Impaired fasting glucose", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-fasting-glucose" }, { "slug": "hypertriglyceridemia", "name": "Increased plasma triglycerides", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertriglyceridemia" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "infertility", "name": "Infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/infertility" }, { "slug": "inflammation-of-the-large-intestine", "name": "Inflammation of the large intestine", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/inflammation-of-the-large-intestine" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "intestinal-malrotation", "name": "Intestinal malrotation", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/intestinal-malrotation" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "neurogenic-bladder", "name": "Lack of bladder control due to nervous system injury", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neurogenic-bladder" }, { "slug": "macrotia", "name": "Large ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrotia" }, { "slug": "large-placenta", "name": "Large placenta", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/large-placenta" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "lobar-holoprosencephaly", "name": "Lobar holoprosencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lobar-holoprosencephaly" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/long-face" }, { "slug": "long-philtrum", "name": "Long philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-philtrum" }, { "slug": "oligohydramnios", "name": "Low levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oligohydramnios" }, { "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": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "male-pseudohermaphroditism", "name": "Male pseudohermaphroditism", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/male-pseudohermaphroditism" }, { "slug": "malformation-of-the-hepatic-ductal-plate", "name": "Malformation of the hepatic ductal plate", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/malformation-of-the-hepatic-ductal-plate" }, { "slug": "medial-flaring-of-the-eyebrow", "name": "Medial flaring of the eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/medial-flaring-of-the-eyebrow" }, { "slug": "irregular-menstruation", "name": "Menstrual irregularity", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/irregular-menstruation" }, { "slug": "otitis-media", "name": "Middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/otitis-media" }, { "slug": "molar-tooth-sign-on-mri", "name": "Molar tooth sign on MRI", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/molar-tooth-sign-on-mri" }, { "slug": "polymicrogyria", "name": "More grooves in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polymicrogyria" }, { "slug": "polydactyly", "name": "More than five fingers or toes on hands or feet", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/polydactyly" }, { "slug": "multicystic-kidney-dysplasia", "name": "Multicystic kidney dysplasia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia" }, { "slug": "multiple-renal-cysts", "name": "Multiple kidney cysts", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/multiple-renal-cysts" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "coarctation-of-aorta", "name": "Narrowing of aorta", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/coarctation-of-aorta" }, { "slug": "attenuation-of-retinal-blood-vessels", "name": "Narrowing of blood vessels in back of eye", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels" }, { "slug": "rhinitis", "name": "Nasal inflammation", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rhinitis" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "nephrotic-syndrome", "name": "Nephrotic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nephrotic-syndrome" }, { "slug": "neurodevelopmental-delay", "name": "Neurodevelopmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/neurodevelopmental-delay" }, { "slug": "type-ii-diabetes-mellitus", "name": "Noninsulin-dependent diabetes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus" }, { "slug": "obesity", "name": "Obesity", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/obesity" }, { "slug": "oculomotor-apraxia", "name": "Oculomotor apraxia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/oculomotor-apraxia" }, { "slug": "olfactory-lobe-agenesis", "name": "Olfactory lobe absence", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/olfactory-lobe-agenesis" }, { "slug": "omphalocele", "name": "Omphalocele", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/omphalocele" }, { "slug": "single-umbilical-artery", "name": "Only one artery in umbilical cord instead of two", "systems": [ "abnormality-of-prenatal-development-or-birth", "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/single-umbilical-artery" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "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": "pancreatic-cysts", "name": "Pancreatic cysts", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pancreatic-cysts" }, { "slug": "pancreatic-fibrosis", "name": "Pancreatic fibrosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pancreatic-fibrosis" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "camptodactyly-of-finger", "name": "Permanent flexion of the finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/camptodactyly-of-finger" }, { "slug": "pigmentary-retinopathy", "name": "Pigmentary retinopathy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pigmentary-retinopathy" }, { "slug": "polycystic-kidney-dysplasia", "name": "Polycystic kidney dysplasia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/polycystic-kidney-dysplasia" }, { "slug": "polycystic-ovaries", "name": "Polycystic ovaries", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polycystic-ovaries" }, { "slug": "pulmonary-hypoplasia", "name": "Poorly developed lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/pulmonary-hypoplasia" }, { "slug": "postaxial-polydactyly", "name": "Postaxial polydactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/postaxial-polydactyly" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "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": "radial-deviation-of-finger", "name": "Radial deviation of finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/radial-deviation-of-finger" }, { "slug": "retrognathia", "name": "Receding chin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retrognathia" }, { "slug": "rod-cone-dystrophy", "name": "Rod-cone dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/rod-cone-dystrophy" }, { "slug": "rotary-nystagmus", "name": "Rotary nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/rotary-nystagmus" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "short-attention-span", "name": "Short attention span", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-attention-span" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "sloping-forehead", "name": "Sloping forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sloping-forehead" }, { "slug": "adrenal-hypoplasia", "name": "Small adrenal glands", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/adrenal-hypoplasia" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "cerebral-hypoplasia", "name": "Small cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-hypoplasia" }, { "slug": "smooth-philtrum", "name": "Smooth philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/smooth-philtrum" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/specific-learning-disability" }, { "slug": "spicular-pigmentation-of-the-retina", "name": "Spicular pigmentation of the retina", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina" }, { "slug": "talipes", "name": "Talipes", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/talipes" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "true-hermaphroditism", "name": "True hermaphroditism", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/true-hermaphroditism" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "hypoplasia-of-the-bladder", "name": "Underdeveloped bladder", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-bladder" }, { "slug": "hypoplasia-of-the-ovary", "name": "Underdeveloped ovary", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-ovary" }, { "slug": "hypoplasia-of-penis", "name": "Underdeveloped penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-penis" }, { "slug": "external-genital-hypoplasia", "name": "Underdevelopment of external reproductive organs", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/external-genital-hypoplasia" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "urethral-atresia", "name": "Urethral atresia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urethral-atresia" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "vesicoureteral-reflux", "name": "Vesicoureteral reflux", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vesicoureteral-reflux" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-loss" }, { "slug": "syndactyly", "name": "Webbed fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/syndactyly" }, { "slug": "webbed-neck", "name": "Webbed neck", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/webbed-neck" }, { "slug": "wide-mouth", "name": "Wide mouth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/wide-mouth" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "cep290", "symbol": "CEP290", "name": "centrosomal protein 290", "shared": 5, "url": "https://dantelabs.com/hu/genes/cep290" }, { "slug": "tmem231", "symbol": "TMEM231", "name": "transmembrane protein 231", "shared": 5, "url": "https://dantelabs.com/hu/genes/tmem231" }, { "slug": "tmem67", "symbol": "TMEM67", "name": "transmembrane protein 67", "shared": 5, "url": "https://dantelabs.com/hu/genes/tmem67" }, { "slug": "ahi1", "symbol": "AHI1", "name": "Abelson helper 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"transmembrane protein 237", "shared": 4, "url": "https://dantelabs.com/hu/genes/tmem237" }, { "slug": "ano10", "symbol": "ANO10", "name": "anoctamin 10", "shared": 2, "url": "https://dantelabs.com/hu/genes/ano10" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }