Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
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Abnormal lip morphology (HP:0000159)help
..Starting node
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Eclabion (HP:0012472)help
Term ID: 12472
Name: Eclabion
Synonym: Eclabium; Everted lips; Outward turned lips
Definition: A turning outward of the lip or lips, that is, eversion of the lips.
Comments:
Reference: HP:0012472
Genes and Diseases:
 
       Child Nodes:
........expandEverted lower lip vermilion (HP:0000232) help
........expandEverted upper lip vermilion (HP:0010803) help

 Sister Nodes: 
..expandAbnormal lower lip morphology (HP:0000178) help
..expandAbnormal upper lip morphology (HP:0000177) help
..expandChapped lip (HP:0040181) help
..expandCheilitis (HP:0100825) help
..expandFused lips (HP:0100788) help
..expandLip discoloration (HP:0025118) help
..expandLip fissure (HP:0031250) help
..expandLip freckle (HP:0010798) help
..expandLip hyperpigmentation (HP:0100816) help
..expandLip pit (HP:0100267) help
..expandLip telangiectasia (HP:0000214) help
..expandNeoplasm of the lip (HP:0100604) help
..expandSwollen lip (HP:0031244) help
..expandThick vermilion border (HP:0012471) help
..expandThin vermilion border (HP:0000233) help
..expandVascular malformation of the lip (HP:0031486) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012472HP:0012472Eclabion0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosisHP:0040282 - Frequent130
HP:0012472HP:0012472Eclabion0ABCA12 CL E G H2615414637OMIM:242500Ichthyosis, congenital, autosomal recessive 4B130
HP:0012472HP:0012472Eclabion0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosis130
HP:0012472HP:0012472Eclabion0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome90
HP:0012472HP:0012472Eclabion0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0012472HP:0012472Eclabion0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0012472HP:0012472Eclabion0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0012472HP:0012472Eclabion0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0012472HP:0012472Eclabion0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosis75
HP:0012472HP:0012472Eclabion0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0012472HP:0012472Eclabion0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 3HP:0040283 - Occasional63
HP:0012472HP:0012472Eclabion0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosis63
HP:0012472HP:0012472Eclabion0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndrome8
HP:0012472HP:0012472Eclabion0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0012472HP:0012472Eclabion0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0012472HP:0012472Eclabion0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0012472HP:0012472Eclabion0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0012472HP:0012472Eclabion0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosis1
HP:0012472HP:0012472Eclabion0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndrome49
HP:0012472HP:0012472Eclabion0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0012472HP:0012472Eclabion0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0012472HP:0012472Eclabion0AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040283 - Occasional435
HP:0012472HP:0012472Eclabion0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0012472HP:0012472Eclabion0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0012472HP:0012472Eclabion0BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin11
HP:0012472HP:0012472Eclabion0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0012472HP:0012472Eclabion0BDNF CL E G H6271033ORPHA:893WAGR syndrome5
HP:0012472HP:0012472Eclabion0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0012472HP:0012472Eclabion0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0012472HP:0012472Eclabion0CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0012472HP:0012472Eclabion0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0012472HP:0012472Eclabion0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorder405
HP:0012472HP:0012472Eclabion0CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0012472HP:0012472Eclabion0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0012472HP:0012472Eclabion0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0012472HP:0012472Eclabion0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome4
HP:0012472HP:0012472Eclabion0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0012472HP:0012472Eclabion0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0012472HP:0012472Eclabion0CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0012472HP:0012472Eclabion0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosis54
HP:0012472HP:0012472Eclabion0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language4
HP:0012472HP:0012472Eclabion0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0012472HP:0012472Eclabion0DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome44
HP:0012472HP:0012472Eclabion0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome11
HP:0012472HP:0012472Eclabion0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0012472HP:0012472Eclabion0EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040283 - Occasional115
HP:0012472HP:0012472Eclabion0EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasia115
HP:0012472HP:0012472Eclabion0EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasia11
HP:0012472HP:0012472Eclabion0EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive86
HP:0012472HP:0012472Eclabion0EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0012472HP:0012472Eclabion0EDARADD CL E G H12817814341OMIM:614940Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant56
HP:0012472HP:0012472Eclabion0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0012472HP:0012472Eclabion0EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040283 - Occasional56
HP:0012472HP:0012472Eclabion0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia3
HP:0012472HP:0012472Eclabion0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0012472HP:0012472Eclabion0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0012472HP:0012472Eclabion0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion223
HP:0012472HP:0012472Eclabion0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0012472HP:0012472Eclabion0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0012472HP:0012472Eclabion0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0012472HP:0012472Eclabion0ERCC1 CL E G H20673433ORPHA:1466COFS syndrome20
HP:0012472HP:0012472Eclabion0ERCC2 CL E G H20683434ORPHA:1466COFS syndrome106
HP:0012472HP:0012472Eclabion0ERCC5 CL E G H20733437ORPHA:1466COFS syndrome83
HP:0012472HP:0012472Eclabion0ERCC6 CL E G H20743438ORPHA:1466COFS syndrome199
HP:0012472HP:0012472Eclabion0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)384
HP:0012472HP:0012472Eclabion0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities7
HP:0012472HP:0012472Eclabion0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0012472HP:0012472Eclabion0FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040283 - Occasional172
HP:0012472HP:0012472Eclabion0FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome68
HP:0012472HP:0012472Eclabion0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0012472HP:0012472Eclabion0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndrome63
HP:0012472HP:0012472Eclabion0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletion177
HP:0012472HP:0012472Eclabion0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0012472HP:0012472Eclabion0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0012472HP:0012472Eclabion0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0012472HP:0012472Eclabion0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0012472HP:0012472Eclabion0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0012472HP:0012472Eclabion0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0012472HP:0012472Eclabion0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0012472HP:0012472Eclabion0H4C5 CL E G H83674790OMIM:619950
HP:0012472HP:0012472Eclabion0H4C9 CL E G H82944793OMIM:619951
HP:0012472HP:0012472Eclabion0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC86
HP:0012472HP:0012472Eclabion0HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital113
HP:0012472HP:0012472Eclabion0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0012472HP:0012472Eclabion0IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0012472HP:0012472Eclabion0IDUA CL E G H34255391ORPHA:93474Scheie syndrome115
HP:0012472HP:0012472Eclabion0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0012472HP:0012472Eclabion0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0012472HP:0012472Eclabion0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0012472HP:0012472Eclabion0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 311
HP:0012472HP:0012472Eclabion0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0012472HP:0012472Eclabion0IGF1R CL E G H34805465ORPHA:73273Growth delay due to insulin-like growth factor I resistance268
HP:0012472HP:0012472Eclabion0IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040283 - Occasional99
HP:0012472HP:0012472Eclabion0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0012472HP:0012472Eclabion0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0012472HP:0012472Eclabion0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0012472HP:0012472Eclabion0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0012472HP:0012472Eclabion0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0012472HP:0012472Eclabion0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0012472HP:0012472Eclabion0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0012472HP:0012472Eclabion0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0012472HP:0012472Eclabion0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome
HP:0012472HP:0012472Eclabion0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0012472HP:0012472Eclabion0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0012472HP:0012472Eclabion0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosis1
HP:0012472HP:0012472Eclabion0LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040283 - Occasional26
HP:0012472HP:0012472Eclabion0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0012472HP:0012472Eclabion0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040284 - Very rare93
HP:0012472HP:0012472Eclabion0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0012472HP:0012472Eclabion0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0012472HP:0012472Eclabion0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0012472HP:0012472Eclabion0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IV78
HP:0012472HP:0012472Eclabion0MDH1 CL E G H41906970OMIM:618959DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0012472HP:0012472Eclabion0MECP2 CL E G H42046990ORPHA:1762Proximal Xq28 duplication syndrome950
HP:0012472HP:0012472Eclabion0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012472HP:0012472Eclabion0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0012472HP:0012472Eclabion0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0012472HP:0012472Eclabion0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0012472HP:0012472Eclabion0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0012472HP:0012472Eclabion0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0012472HP:0012472Eclabion0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0012472HP:0012472Eclabion0MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndrome12
HP:0012472HP:0012472Eclabion0MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040283 - Occasional12
HP:0012472HP:0012472Eclabion0MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0012472HP:0012472Eclabion0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0012472HP:0012472Eclabion0NAA10 CL E G H826018704ORPHA:276432Ogden syndrome23
HP:0012472HP:0012472Eclabion0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0012472HP:0012472Eclabion0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0012472HP:0012472Eclabion0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0012472HP:0012472Eclabion0NFIX CL E G H47847788OMIM:614753Sotos syndrome 240
HP:0012472HP:0012472Eclabion0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosis60
HP:0012472HP:0012472Eclabion0NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital102
HP:0012472HP:0012472Eclabion0OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:0012472HP:0012472Eclabion0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0012472HP:0012472Eclabion0PAX6 CL E G H50808620ORPHA:893WAGR syndrome194
HP:0012472HP:0012472Eclabion0PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040283 - Occasional58
HP:0012472HP:0012472Eclabion0PCDHGC4 CL E G H560988717OMIM:619880
HP:0012472HP:0012472Eclabion0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndrome51
HP:0012472HP:0012472Eclabion0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0012472HP:0012472Eclabion0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0012472HP:0012472Eclabion0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0012472HP:0012472Eclabion0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0012472HP:0012472Eclabion0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome90
HP:0012472HP:0012472Eclabion0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome135
HP:0012472HP:0012472Eclabion0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0012472HP:0012472Eclabion0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0012472HP:0012472Eclabion0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0012472HP:0012472Eclabion0RIN2 CL E G H5445318750OMIM:613075Macs syndrome.43
HP:0012472HP:0012472Eclabion0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0012472HP:0012472Eclabion0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndrome65
HP:0012472HP:0012472Eclabion0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome65
HP:0012472HP:0012472Eclabion0RPS6KA3 CL E G H619710432OMIM:300844MENTAL RETARDATION, X-LINKED 19; MRX1965
HP:0012472HP:0012472Eclabion0RPS6KA3 CL E G H619710432ORPHA:276630Symptomatic form of Coffin-Lowry syndrome in female carriers65
HP:0012472HP:0012472Eclabion0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0012472HP:0012472Eclabion0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0012472HP:0012472Eclabion0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosis2
HP:0012472HP:0012472Eclabion0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0012472HP:0012472Eclabion0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0012472HP:0012472Eclabion0SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty type
HP:0012472HP:0012472Eclabion0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndrome146
HP:0012472HP:0012472Eclabion0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0012472HP:0012472Eclabion0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0012472HP:0012472Eclabion0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0012472HP:0012472Eclabion0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0012472HP:0012472Eclabion0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0012472HP:0012472Eclabion0SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndrome6
HP:0012472HP:0012472Eclabion0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0012472HP:0012472Eclabion0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0012472HP:0012472Eclabion0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosis4
HP:0012472HP:0012472Eclabion0SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040283 - Occasional8
HP:0012472HP:0012472Eclabion0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0012472HP:0012472Eclabion0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndrome22
HP:0012472HP:0012472Eclabion0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0012472HP:0012472Eclabion0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0012472HP:0012472Eclabion0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0012472HP:0012472Eclabion0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0012472HP:0012472Eclabion0TFAP2B CL E G H702111743ORPHA:46627Char syndrome104
HP:0012472HP:0012472Eclabion0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012472HP:0012472Eclabion0TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040283 - Occasional
HP:0012472HP:0012472Eclabion0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040282 - Frequent98
HP:0012472HP:0012472Eclabion0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 198
HP:0012472HP:0012472Eclabion0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosis98
HP:0012472HP:0012472Eclabion0TMEM147 CL E G H1043030414OMIM:620075
HP:0012472HP:0012472Eclabion0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0012472HP:0012472Eclabion0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012472HP:0012472Eclabion0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012472HP:0012472Eclabion0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0012472HP:0012472Eclabion0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:0012472HP:0012472Eclabion0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome8
HP:0012472HP:0012472Eclabion0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:0012472HP:0012472Eclabion0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0012472HP:0012472Eclabion0WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040283 - Occasional71
HP:0012472HP:0012472Eclabion0WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040283 - Occasional4
HP:0012472HP:0012472Eclabion0WT1 CL E G H749012796ORPHA:893WAGR syndrome177
HP:0012472HP:0012472Eclabion0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features5
HP:0012472HP:0000232Everted lower lip vermilion1ABCA12 CL E G H2615414637OMIM:242500Ichthyosis, congenital, autosomal recessive 4B.130
HP:0012472HP:0000232Everted lower lip vermilion1ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosisHP:0040282 - Frequent130
HP:0012472HP:0000232Everted lower lip vermilion1ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0012472HP:0000232Everted lower lip vermilion1ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0012472HP:0000232Everted lower lip vermilion1ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0012472HP:0000232Everted lower lip vermilion1ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040283 - Occasional75
HP:0012472HP:0000232Everted lower lip vermilion1ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosisHP:0040282 - Frequent75
HP:0012472HP:0000232Everted lower lip vermilion1ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2HP:0040283 - Occasional63
HP:0012472HP:0000232Everted lower lip vermilion1ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosisHP:0040282 - Frequent63
HP:0012472HP:0000232Everted lower lip vermilion1ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0012472HP:0010803Everted upper lip vermilion1AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional49
HP:0012472HP:0010803Everted upper lip vermilion1AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional48
HP:0012472HP:0010803Everted upper lip vermilion1AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional41
HP:0012472HP:0010803Everted upper lip vermilion1AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional18
HP:0012472HP:0000232Everted lower lip vermilion1ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosisHP:0040282 - Frequent1
HP:0012472HP:0000232Everted lower lip vermilion1ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0012472HP:0000232Everted lower lip vermilion1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0012472HP:0000232Everted lower lip vermilion1ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040282 - Frequent169
HP:0012472HP:0000232Everted lower lip vermilion1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0012472HP:0000232Everted lower lip vermilion1BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0012472HP:0000232Everted lower lip vermilion1BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin.11
HP:0012472HP:0000232Everted lower lip vermilion1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0012472HP:0000232Everted lower lip vermilion1BDNF CL E G H6271033ORPHA:893WAGR syndromeHP:0040282 - Frequent5
HP:0012472HP:0000232Everted lower lip vermilion1BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0012472HP:0000232Everted lower lip vermilion1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0012472HP:0000232Everted lower lip vermilion1CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040281 - Very frequent5
HP:0012472HP:0000232Everted lower lip vermilion1CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0012472HP:0000232Everted lower lip vermilion1CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0012472HP:0000232Everted lower lip vermilion1CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0012472HP:0000232Everted lower lip vermilion1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0012472HP:0000232Everted lower lip vermilion1CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040283 - Occasional4
HP:0012472HP:0000232Everted lower lip vermilion1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0012472HP:0010803Everted upper lip vermilion1CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0012472HP:0000232Everted lower lip vermilion1CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040281 - Very frequent127
HP:0012472HP:0000232Everted lower lip vermilion1CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosisHP:0040282 - Frequent54
HP:0012472HP:0000232Everted lower lip vermilion1DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0012472HP:0000232Everted lower lip vermilion1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0012472HP:0010803Everted upper lip vermilion1DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome44
HP:0012472HP:0000232Everted lower lip vermilion1DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0012472HP:0000232Everted lower lip vermilion1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0012472HP:0010803Everted upper lip vermilion1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0012472HP:0010803Everted upper lip vermilion1EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent115
HP:0012472HP:0000232Everted lower lip vermilion1EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent115
HP:0012472HP:0010803Everted upper lip vermilion1EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent11
HP:0012472HP:0000232Everted lower lip vermilion1EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent11
HP:0012472HP:0010803Everted upper lip vermilion1EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0012472HP:0000232Everted lower lip vermilion1EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0012472HP:0010803Everted upper lip vermilion1EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0012472HP:0000232Everted lower lip vermilion1EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0012472HP:0000232Everted lower lip vermilion1EDARADD CL E G H12817814341OMIM:614940Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant.56
HP:0012472HP:0000232Everted lower lip vermilion1EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0012472HP:0000232Everted lower lip vermilion1EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia.3
HP:0012472HP:0000232Everted lower lip vermilion1EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 38.60
HP:0012472HP:0000232Everted lower lip vermilion1EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0012472HP:0000232Everted lower lip vermilion1EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040281 - Very frequent223
HP:0012472HP:0000232Everted lower lip vermilion1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0012472HP:0000232Everted lower lip vermilion1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0012472HP:0010803Everted upper lip vermilion1EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0012472HP:0000232Everted lower lip vermilion1ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040281 - Very frequent20
HP:0012472HP:0000232Everted lower lip vermilion1ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040281 - Very frequent106
HP:0012472HP:0000232Everted lower lip vermilion1ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040281 - Very frequent83
HP:0012472HP:0000232Everted lower lip vermilion1ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040281 - Very frequent199
HP:0012472HP:0000232Everted lower lip vermilion1FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0012472HP:0000232Everted lower lip vermilion1FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0012472HP:0000232Everted lower lip vermilion1FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040281 - Very frequent62
HP:0012472HP:0000232Everted lower lip vermilion1FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome.68
HP:0012472HP:0000232Everted lower lip vermilion1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0012472HP:0000232Everted lower lip vermilion1FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040282 - Frequent63
HP:0012472HP:0000232Everted lower lip vermilion1FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040281 - Very frequent177
HP:0012472HP:0000232Everted lower lip vermilion1FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0012472HP:0000232Everted lower lip vermilion1GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0012472HP:0010803Everted upper lip vermilion1GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0012472HP:0000232Everted lower lip vermilion1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0012472HP:0000232Everted lower lip vermilion1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0012472HP:0000232Everted lower lip vermilion1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0012472HP:0000232Everted lower lip vermilion1H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0012472HP:0010803Everted upper lip vermilion1H4C9 CL E G H82944793OMIM:619951
HP:0012472HP:0000232Everted lower lip vermilion1HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0012472HP:0000232Everted lower lip vermilion1HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital.113
HP:0012472HP:0000232Everted lower lip vermilion1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040281 - Very frequent345
HP:0012472HP:0000232Everted lower lip vermilion1IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040282 - Frequent115
HP:0012472HP:0000232Everted lower lip vermilion1IDUA CL E G H34255391ORPHA:93474Scheie syndromeHP:0040282 - Frequent115
HP:0012472HP:0000232Everted lower lip vermilion1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0012472HP:0000232Everted lower lip vermilion1IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040282 - Frequent93
HP:0012472HP:0000232Everted lower lip vermilion1IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040282 - Frequent11
HP:0012472HP:0000232Everted lower lip vermilion1IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3HP:0040283 - Occasional11
HP:0012472HP:0000232Everted lower lip vermilion1IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040282 - Frequent4
HP:0012472HP:0000232Everted lower lip vermilion1IGF1R CL E G H34805465ORPHA:73273Growth delay due to insulin-like growth factor I resistanceHP:0040282 - Frequent268
HP:0012472HP:0000232Everted lower lip vermilion1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0012472HP:0000232Everted lower lip vermilion1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0012472HP:0000232Everted lower lip vermilion1KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0012472HP:0000232Everted lower lip vermilion1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0012472HP:0010803Everted upper lip vermilion1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0012472HP:0000232Everted lower lip vermilion1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0012472HP:0010803Everted upper lip vermilion1KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0012472HP:0000232Everted lower lip vermilion1KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0012472HP:0010803Everted upper lip vermilion1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0012472HP:0000232Everted lower lip vermilion1KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0012472HP:0000232Everted lower lip vermilion1KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0012472HP:0000232Everted lower lip vermilion1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0012472HP:0000232Everted lower lip vermilion1LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosisHP:0040282 - Frequent1
HP:0012472HP:0000232Everted lower lip vermilion1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0012472HP:0010803Everted upper lip vermilion1MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0012472HP:0000232Everted lower lip vermilion1MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0012472HP:0000232Everted lower lip vermilion1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0012472HP:0000232Everted lower lip vermilion1MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040283 - Occasional78
HP:0012472HP:0000232Everted lower lip vermilion1MDH1 CL E G H41906970OMIM:618959DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0012472HP:0000232Everted lower lip vermilion1MECP2 CL E G H42046990ORPHA:1762Proximal Xq28 duplication syndromeHP:0040281 - Very frequent950
HP:0012472HP:0000232Everted lower lip vermilion1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0012472HP:0000232Everted lower lip vermilion1MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0012472HP:0000232Everted lower lip vermilion1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040282 - Frequent43
HP:0012472HP:0000232Everted lower lip vermilion1MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0012472HP:0000232Everted lower lip vermilion1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0012472HP:0000232Everted lower lip vermilion1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0012472HP:0000232Everted lower lip vermilion1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0012472HP:0000232Everted lower lip vermilion1MSX1 CL E G H44877391ORPHA:2228Hypodontia-dysplasia of nails syndromeHP:0040282 - Frequent12
HP:0012472HP:0000232Everted lower lip vermilion1MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0012472HP:0000232Everted lower lip vermilion1MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0012472HP:0010803Everted upper lip vermilion1NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0012472HP:0010803Everted upper lip vermilion1NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0012472HP:0000232Everted lower lip vermilion1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0012472HP:0000232Everted lower lip vermilion1NFIX CL E G H47847788OMIM:614753Sotos syndrome 2.40
HP:0012472HP:0000232Everted lower lip vermilion1NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosisHP:0040282 - Frequent60
HP:0012472HP:0000232Everted lower lip vermilion1NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital.102
HP:0012472HP:0000232Everted lower lip vermilion1OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040281 - Very frequent143
HP:0012472HP:0000232Everted lower lip vermilion1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0012472HP:0000232Everted lower lip vermilion1PAX6 CL E G H50808620ORPHA:893WAGR syndromeHP:0040282 - Frequent194
HP:0012472HP:0000232Everted lower lip vermilion1PCDHGC4 CL E G H560988717OMIM:619880
HP:0012472HP:0000232Everted lower lip vermilion1PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040282 - Frequent51
HP:0012472HP:0000232Everted lower lip vermilion1PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040282 - Frequent
HP:0012472HP:0000232Everted lower lip vermilion1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0012472HP:0000232Everted lower lip vermilion1PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature.
HP:0012472HP:0000232Everted lower lip vermilion1QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0012472HP:0000232Everted lower lip vermilion1RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent90
HP:0012472HP:0000232Everted lower lip vermilion1RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent135
HP:0012472HP:0010803Everted upper lip vermilion1RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0012472HP:0000232Everted lower lip vermilion1REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040282 - Frequent3
HP:0012472HP:0000232Everted lower lip vermilion1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0012472HP:0000232Everted lower lip vermilion1RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0012472HP:0000232Everted lower lip vermilion1RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040281 - Very frequent65
HP:0012472HP:0000232Everted lower lip vermilion1RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0012472HP:0000232Everted lower lip vermilion1RPS6KA3 CL E G H619710432OMIM:300844MENTAL RETARDATION, X-LINKED 19; MRX1965
HP:0012472HP:0000232Everted lower lip vermilion1RPS6KA3 CL E G H619710432ORPHA:276630Symptomatic form of Coffin-Lowry syndrome in female carriersHP:0040283 - Occasional65
HP:0012472HP:0000232Everted lower lip vermilion1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0012472HP:0000232Everted lower lip vermilion1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0012472HP:0000232Everted lower lip vermilion1SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosisHP:0040282 - Frequent2
HP:0012472HP:0010803Everted upper lip vermilion1SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0012472HP:0000232Everted lower lip vermilion1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0012472HP:0000232Everted lower lip vermilion1SLC25A24 CL E G H2995720662ORPHA:2963Progeroid syndrome, Petty typeHP:0040281 - Very frequent
HP:0012472HP:0000232Everted lower lip vermilion1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0012472HP:0000232Everted lower lip vermilion1SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040281 - Very frequent146
HP:0012472HP:0000232Everted lower lip vermilion1SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0012472HP:0000232Everted lower lip vermilion1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040284 - Very rare19
HP:0012472HP:0000232Everted lower lip vermilion1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0012472HP:0000232Everted lower lip vermilion1SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0012472HP:0000232Everted lower lip vermilion1SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040282 - Frequent6
HP:0012472HP:0000232Everted lower lip vermilion1SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0012472HP:0000232Everted lower lip vermilion1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0012472HP:0000232Everted lower lip vermilion1SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosisHP:0040282 - Frequent4
HP:0012472HP:0000232Everted lower lip vermilion1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome.271
HP:0012472HP:0000232Everted lower lip vermilion1TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040281 - Very frequent22
HP:0012472HP:0000232Everted lower lip vermilion1TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome.22
HP:0012472HP:0000232Everted lower lip vermilion1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0012472HP:0010803Everted upper lip vermilion1TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0012472HP:0000232Everted lower lip vermilion1TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040281 - Very frequent12
HP:0012472HP:0000232Everted lower lip vermilion1TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040281 - Very frequent104
HP:0012472HP:0000232Everted lower lip vermilion1TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012472HP:0000232Everted lower lip vermilion1TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 1.98
HP:0012472HP:0000232Everted lower lip vermilion1TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosisHP:0040282 - Frequent98
HP:0012472HP:0000232Everted lower lip vermilion1TMEM147 CL E G H1043030414OMIM:620075
HP:0012472HP:0000232Everted lower lip vermilion1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0012472HP:0000232Everted lower lip vermilion1TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0012472HP:0000232Everted lower lip vermilion1TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0012472HP:0000232Everted lower lip vermilion1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0012472HP:0000232Everted lower lip vermilion1WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040282 - Frequent95
HP:0012472HP:0010803Everted upper lip vermilion1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040281 - Very frequent8
HP:0012472HP:0000232Everted lower lip vermilion1WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040282 - Frequent136
HP:0012472HP:0000232Everted lower lip vermilion1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0012472HP:0000232Everted lower lip vermilion1WT1 CL E G H749012796ORPHA:893WAGR syndromeHP:0040282 - Frequent177
HP:0012472HP:0000232Everted lower lip vermilion1ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5


Genes (163) :ABCA12 ABHD5 ADAMTS2 ADNP ALOX12B ALOXE3 ANTXR1 AP4B1 AP4E1 AP4M1 AP4S1 ASPRV1 ASXL3 ATRX AXIN2 BAZ1B BCAS3 BCL11A BCL7B BDNF BMP2 BUD23 CCDC8 CDH11 CDKL5 CERS3 CHAMP1 CHN1 CLIC2 CLIP2 CREBBP CUL7 CYP4F22 DHX30 DNAJC30 DNMT3A DOCK7 EDA EDA2R EDAR EDARADD EDNRA EEF1A2 EHMT1 EIF4H ELN EPG5 ERCC1 ERCC2 ERCC5 ERCC6 FBXL4 FBXO11 FGD1 FGFR1 FHL1 FKBP6 FOXC1 FOXG1 FRMD4A GBA1 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C5 H4C9 HGSNAT HRAS HSPG2 IDUA IFT122 IFT43 IFT52 IGF1R IRF6 IRX5 KANSL1 KCNH1 KCNK4 KCNMA1 KIF7 KIFBP KMT2C LIMK1 LIPN LRP6 MAFB MAN1B1 MAP1B MBD5 MCOLN1 MDH1 MECP2 MED12L MED13L MED25 METTL27 MGAT2 MLXIPL MSX1 MYCN MYO18B NAA10 NCF1 NFIX NIPAL4 NRAS OBSL1 OCRL PAX6 PAX9 PCDHGC4 PITX2 PLXND1 POMGNT1 PUS7 QRICH1 RAB3GAP1 RAB3GAP2 RAI1 REV3L RFC2 RIN2 RPL10 RPS6KA3 SALL4 SCARF2 SDR9C7 SETD1A SLC25A24 SMARCA2 SMG9 SMS SNRPN SOX11 SPECC1L SRCAP STX1A SULT2B1 SUMO1 TBC1D24 TBL1XR1 TBL2 TCF3 TFAP2A TFAP2B TFE3 TGFA TGM1 TMEM147 TMEM270 TNPO2 TTC26 VPS37D WDR19 WDR26 WDR35 WNT10A WNT10B WT1 ZSWIM6

Diseases (133) :ORPHA:457 OMIM:242500 ORPHA:313 OMIM:275630 ORPHA:98907 OMIM:225410 OMIM:615873 OMIM:242100 OMIM:606545 ORPHA:2067 ORPHA:280763 ORPHA:352577 OMIM:615485 ORPHA:847 ORPHA:99798 ORPHA:904 OMIM:619641 OMIM:617101 ORPHA:893 OMIM:617877 ORPHA:2616 OMIM:619736 ORPHA:505652 OMIM:615023 OMIM:616579 ORPHA:233 ORPHA:324410 OMIM:618332 OMIM:617804 OMIM:615879 ORPHA:411986 OMIM:305100 ORPHA:181 OMIM:224900 OMIM:614940 OMIM:614941 OMIM:616367 OMIM:616393 OMIM:610253 ORPHA:96147 OMIM:242840 ORPHA:1466 OMIM:615471 OMIM:618089 ORPHA:915 OMIM:300280 ORPHA:782 ORPHA:261144 OMIM:616819 OMIM:608013 OMIM:616395 OMIM:619720 OMIM:619950 OMIM:619951 OMIM:252930 OMIM:137550 ORPHA:800 ORPHA:93473 ORPHA:93474 OMIM:218330 ORPHA:1515 OMIM:614099 ORPHA:73273 OMIM:611174 ORPHA:363958 OMIM:610443 ORPHA:363965 ORPHA:420561 OMIM:618381 OMIM:618729 OMIM:200990 OMIM:609460 OMIM:617768 ORPHA:397941 OMIM:618918 ORPHA:228402 OMIM:156200 ORPHA:578 OMIM:618959 ORPHA:1762 OMIM:618872 OMIM:616789 ORPHA:464738 OMIM:616449 OMIM:212066 ORPHA:2228 OMIM:164280 OMIM:616549 ORPHA:276432 OMIM:300855 OMIM:602535 OMIM:614753 ORPHA:534 OMIM:619880 ORPHA:570 OMIM:253280 OMIM:618342 OMIM:617982 ORPHA:1387 OMIM:182290 OMIM:613075 ORPHA:459070 ORPHA:192 OMIM:303600 OMIM:300844 ORPHA:276630 OMIM:600920 OMIM:619056 OMIM:612289 ORPHA:2963 ORPHA:3051 OMIM:601358 OMIM:616920 ORPHA:3063 ORPHA:177907 OMIM:615866 ORPHA:1519 OMIM:619595 OMIM:220500 ORPHA:487825 OMIM:602342 OMIM:619824 ORPHA:1297 ORPHA:46627 OMIM:301066 ORPHA:100976 OMIM:242300 OMIM:620075 OMIM:619556 OMIM:619534 ORPHA:513456 OMIM:613610 OMIM:617865
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.