Human Phenotype Ontology 
Grandparent Node:
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Abnormal upper lip morphology (HP:0000177)help
Parent Node:
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Abnormality of the philtrum (HP:0000288)help
..Starting node
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Long philtrum (HP:0000343)help
Term ID: 343
Name: Long philtrum
Synonym: Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum
Definition: Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Comments:
Reference: HP:0000343
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBroad philtrum (HP:0000289) help
..expandDeep philtrum (HP:0002002) help
..expandHypoplastic philtrum (HP:0005326) help
..expandMalaligned philtral ridges (HP:0011827) help
..expandMidline sinus of philtrum (HP:0011828) help
..expandNarrow philtrum (HP:0011829) help
..expandPhiltrum with midline raphe (HP:0011826) help
..expandShort philtrum (HP:0000322) help
..expandSmooth philtrum (HP:0000319) help
..expandTented philtrum (HP:0011825) 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:0000343HP:0000343Long philtrum0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000343HP:0000343Long philtrum0ABCC8 CL E G H683359ORPHA:79134DEND syndromeHP:0040283 - Occasional245
HP:0000343HP:0000343Long philtrum0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0000343HP:0000343Long philtrum0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040281 - Very frequent254
HP:0000343HP:0000343Long philtrum0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional96
HP:0000343HP:0000343Long philtrum0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0000343HP:0000343Long philtrum0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0000343HP:0000343Long philtrum0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0000343HP:0000343Long philtrum0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2.123
HP:0000343HP:0000343Long philtrum0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0000343HP:0000343Long philtrum0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0000343HP:0000343Long philtrum0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0000343HP:0000343Long philtrum0ADSL CL E G H158291ORPHA:46Adenylosuccinate lyase deficiencyHP:0040281 - Very frequent118
HP:0000343HP:0000343Long philtrum0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0000343HP:0000343Long philtrum0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000343HP:0000343Long philtrum0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0000343HP:0000343Long philtrum0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040283 - Occasional41
HP:0000343HP:0000343Long philtrum0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDGHP:0040282 - Frequent96
HP:0000343HP:0000343Long philtrum0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0000343HP:0000343Long philtrum0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000343HP:0000343Long philtrum0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0000343HP:0000343Long philtrum0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040282 - Frequent102
HP:0000343HP:0000343Long philtrum0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000343HP:0000343Long philtrum0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0000343HP:0000343Long philtrum0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0000343HP:0000343Long philtrum0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000343HP:0000343Long philtrum0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare
HP:0000343HP:0000343Long philtrum0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000343HP:0000343Long philtrum0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040282 - Frequent3179
HP:0000343HP:0000343Long philtrum0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0000343HP:0000343Long philtrum0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000343HP:0000343Long philtrum0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040283 - Occasional219
HP:0000343HP:0000343Long philtrum0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000343HP:0000343Long philtrum0ARSK CL E G H15364225239OMIM:619698MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000343HP:0000343Long philtrum0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0000343HP:0000343Long philtrum0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0000343HP:0000343Long philtrum0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0000343HP:0000343Long philtrum0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0000343HP:0000343Long philtrum0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0000343HP:0000343Long philtrum0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0000343HP:0000343Long philtrum0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0000343HP:0000343Long philtrum0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0000343HP:0000343Long philtrum0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040281 - Very frequent5
HP:0000343HP:0000343Long philtrum0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0000343HP:0000343Long philtrum0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0000343HP:0000343Long philtrum0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0000343HP:0000343Long philtrum0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0000343HP:0000343Long philtrum0AVP CL E G H551894OMIM:125700Diabetes insipidus, Neurohypophyseal type.22
HP:0000343HP:0000343Long philtrum0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0000343HP:0000343Long philtrum0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0000343HP:0000343Long philtrum0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0000343HP:0000343Long philtrum0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0000343HP:0000343Long philtrum0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000343HP:0000343Long philtrum0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000343HP:0000343Long philtrum0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000343HP:0000343Long philtrum0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0000343HP:0000343Long philtrum0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000343HP:0000343Long philtrum0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040282 - Frequent101
HP:0000343HP:0000343Long philtrum0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIIIHP:0040283 - Occasional49
HP:0000343HP:0000343Long philtrum0BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndromeHP:0040283 - Occasional13
HP:0000343HP:0000343Long philtrum0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0000343HP:0000343Long philtrum0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000343HP:0000343Long philtrum0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0000343HP:0000343Long philtrum0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040282 - Frequent8
HP:0000343HP:0000343Long philtrum0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0000343HP:0000343Long philtrum0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0000343HP:0000343Long philtrum0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0000343HP:0000343Long philtrum0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0000343HP:0000343Long philtrum0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 59.1
HP:0000343HP:0000343Long philtrum0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0000343HP:0000343Long philtrum0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent34
HP:0000343HP:0000343Long philtrum0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0000343HP:0000343Long philtrum0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia.118
HP:0000343HP:0000343Long philtrum0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040282 - Frequent118
HP:0000343HP:0000343Long philtrum0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0000343HP:0000343Long philtrum0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0000343HP:0000343Long philtrum0CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040282 - Frequent5
HP:0000343HP:0000343Long philtrum0CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0000343HP:0000343Long philtrum0CCNK CL E G H88121596OMIM:618147Intellectual developmental disorder with hypertelorism and distinctive facies.3
HP:0000343HP:0000343Long philtrum0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0000343HP:0000343Long philtrum0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000343HP:0000343Long philtrum0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0000343HP:0000343Long philtrum0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0000343HP:0000343Long philtrum0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000343HP:0000343Long philtrum0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000343HP:0000343Long philtrum0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0000343HP:0000343Long philtrum0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare227
HP:0000343HP:0000343Long philtrum0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000343HP:0000343Long philtrum0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional68
HP:0000343HP:0000343Long philtrum0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0000343HP:0000343Long philtrum0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000343HP:0000343Long philtrum0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0000343HP:0000343Long philtrum0CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasiaHP:0040282 - Frequent165
HP:0000343HP:0000343Long philtrum0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0000343HP:0000343Long philtrum0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocationsHP:0040282 - Frequent165
HP:0000343HP:0000343Long philtrum0CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent6
HP:0000343HP:0000343Long philtrum0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000343HP:0000343Long philtrum0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000343HP:0000343Long philtrum0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0000343HP:0000343Long philtrum0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis.2
HP:0000343HP:0000343Long philtrum0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0000343HP:0000343Long philtrum0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0000343HP:0000343Long philtrum0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0000343HP:0000343Long philtrum0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040281 - Very frequent215
HP:0000343HP:0000343Long philtrum0COL11A2 CL E G H13022187ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasiaHP:0040281 - Very frequent222
HP:0000343HP:0000343Long philtrum0COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II284
HP:0000343HP:0000343Long philtrum0COL2A1 CL E G H12802200ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasiaHP:0040281 - Very frequent284
HP:0000343HP:0000343Long philtrum0COL2A1 CL E G H12802200ORPHA:90653Stickler syndrome type 1HP:0040281 - Very frequent284
HP:0000343HP:0000343Long philtrum0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0000343HP:0000343Long philtrum0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 2HP:0040283 - Occasional6
HP:0000343HP:0000343Long philtrum0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0000343HP:0000343Long philtrum0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000343HP:0000343Long philtrum0CRLF1 CL E G H92442364ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent24
HP:0000343HP:0000343Long philtrum0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0000343HP:0000343Long philtrum0CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII.124
HP:0000343HP:0000343Long philtrum0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000343HP:0000343Long philtrum0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0000343HP:0000343Long philtrum0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0000343HP:0000343Long philtrum0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects.88
HP:0000343HP:0000343Long philtrum0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0000343HP:0000343Long philtrum0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0000343HP:0000343Long philtrum0CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040282 - Frequent127
HP:0000343HP:0000343Long philtrum0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000343HP:0000343Long philtrum0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0000343HP:0000343Long philtrum0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000343HP:0000343Long philtrum0DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0000343HP:0000343Long philtrum0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0000343HP:0000343Long philtrum0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0000343HP:0000343Long philtrum0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0000343HP:0000343Long philtrum0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0000343HP:0000343Long philtrum0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 2.14
HP:0000343HP:0000343Long philtrum0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0000343HP:0000343Long philtrum0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000343HP:0000343Long philtrum0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent304
HP:0000343HP:0000343Long philtrum0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0000343HP:0000343Long philtrum0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0000343HP:0000343Long philtrum0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040281 - Very frequent4
HP:0000343HP:0000343Long philtrum0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0000343HP:0000343Long philtrum0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0ELN CL E G H20063327OMIM:123700Cutis laxa, autosomal dominant 1172
HP:0000343HP:0000343Long philtrum0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0000343HP:0000343Long philtrum0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000343HP:0000343Long philtrum0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0000343HP:0000343Long philtrum0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0000343HP:0000343Long philtrum0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0000343HP:0000343Long philtrum0EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000343HP:0000343Long philtrum0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000343HP:0000343Long philtrum0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0000343HP:0000343Long philtrum0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent96
HP:0000343HP:0000343Long philtrum0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040282 - Frequent102
HP:0000343HP:0000343Long philtrum0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0000343HP:0000343Long philtrum0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040281 - Very frequent81
HP:0000343HP:0000343Long philtrum0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0000343HP:0000343Long philtrum0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040283 - Occasional7
HP:0000343HP:0000343Long philtrum0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0000343HP:0000343Long philtrum0FBN1 CL E G H22003603ORPHA:969Acromicric dysplasiaHP:0040281 - Very frequent1361
HP:0000343HP:0000343Long philtrum0FBN1 CL E G H22003603OMIM:102370Acromicric dysplasia.1361
HP:0000343HP:0000343Long philtrum0FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0000343HP:0000343Long philtrum0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0000343HP:0000343Long philtrum0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040282 - Frequent62
HP:0000343HP:0000343Long philtrum0FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040282 - Frequent18
HP:0000343HP:0000343Long philtrum0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0000343HP:0000343Long philtrum0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0000343HP:0000343Long philtrum0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0000343HP:0000343Long philtrum0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0000343HP:0000343Long philtrum0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0000343HP:0000343Long philtrum0FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasiaHP:0040282 - Frequent
HP:0000343HP:0000343Long philtrum0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0000343HP:0000343Long philtrum0FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA.
HP:0000343HP:0000343Long philtrum0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0000343HP:0000343Long philtrum0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0000343HP:0000343Long philtrum0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0000343HP:0000343Long philtrum0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000343HP:0000343Long philtrum0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000343HP:0000343Long philtrum0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040283 - Occasional120
HP:0000343HP:0000343Long philtrum0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism.143
HP:0000343HP:0000343Long philtrum0GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0000343HP:0000343Long philtrum0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0000343HP:0000343Long philtrum0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0000343HP:0000343Long philtrum0GPC6 CL E G H100824454ORPHA:93329Autosomal recessive omodysplasiaHP:0040281 - Very frequent99
HP:0000343HP:0000343Long philtrum0GPC6 CL E G H100824454OMIM:258315Omodysplasia 1.99
HP:0000343HP:0000343Long philtrum0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000343HP:0000343Long philtrum0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000343HP:0000343Long philtrum0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000343HP:0000343Long philtrum0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000343HP:0000343Long philtrum0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000343HP:0000343Long philtrum0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0000343HP:0000343Long philtrum0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0000343HP:0000343Long philtrum0HES7 CL E G H8466715977ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional10
HP:0000343HP:0000343Long philtrum0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0000343HP:0000343Long philtrum0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000343HP:0000343Long philtrum0HRAS CL E G H32655173OMIM:137550Melanocytic nevus syndrome, congenital.113
HP:0000343HP:0000343Long philtrum0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0000343HP:0000343Long philtrum0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0000343HP:0000343Long philtrum0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0000343HP:0000343Long philtrum0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0000343HP:0000343Long philtrum0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0000343HP:0000343Long philtrum0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0000343HP:0000343Long philtrum0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent65
HP:0000343HP:0000343Long philtrum0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly2
HP:0000343HP:0000343Long philtrum0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0000343HP:0000343Long philtrum0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0000343HP:0000343Long philtrum0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000343HP:0000343Long philtrum0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0000343HP:0000343Long philtrum0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0000343HP:0000343Long philtrum0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000343HP:0000343Long philtrum0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040282 - Frequent141
HP:0000343HP:0000343Long philtrum0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0000343HP:0000343Long philtrum0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0000343HP:0000343Long philtrum0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0000343HP:0000343Long philtrum0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 113
HP:0000343HP:0000343Long philtrum0KCNJ11 CL E G H37676257ORPHA:79134DEND syndromeHP:0040283 - Occasional127
HP:0000343HP:0000343Long philtrum0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040281 - Very frequent23
HP:0000343HP:0000343Long philtrum0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000343HP:0000343Long philtrum0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0000343HP:0000343Long philtrum0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0000343HP:0000343Long philtrum0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0000343HP:0000343Long philtrum0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000343HP:0000343Long philtrum0KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040283 - Occasional327
HP:0000343HP:0000343Long philtrum0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional13
HP:0000343HP:0000343Long philtrum0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0000343HP:0000343Long philtrum0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0000343HP:0000343Long philtrum0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000343HP:0000343Long philtrum0LFNG CL E G H39556560ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional13
HP:0000343HP:0000343Long philtrum0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0000343HP:0000343Long philtrum0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000343HP:0000343Long philtrum0LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasiaHP:0040281 - Very frequent12
HP:0000343HP:0000343Long philtrum0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3HP:0040284 - Very rare12
HP:0000343HP:0000343Long philtrum0LTBP4 CL E G H84256717OMIM:613177Cutis laxa, autosomal recessive, type IC.92
HP:0000343HP:0000343Long philtrum0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0000343HP:0000343Long philtrum0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome5
HP:0000343HP:0000343Long philtrum0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000343HP:0000343Long philtrum0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0000343HP:0000343Long philtrum0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0000343HP:0000343Long philtrum0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0000343HP:0000343Long philtrum0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0000343HP:0000343Long philtrum0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome.11
HP:0000343HP:0000343Long philtrum0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000343HP:0000343Long philtrum0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0000343HP:0000343Long philtrum0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0000343HP:0000343Long philtrum0MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 25.25
HP:0000343HP:0000343Long philtrum0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0000343HP:0000343Long philtrum0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0000343HP:0000343Long philtrum0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0000343HP:0000343Long philtrum0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000343HP:0000343Long philtrum0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000343HP:0000343Long philtrum0MEIS2 CL E G H42127001ORPHA:26119015q14 microdeletion syndromeHP:0040283 - Occasional7
HP:0000343HP:0000343Long philtrum0MESP2 CL E G H14587329659ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0000343HP:0000343Long philtrum0METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 44HP:0040283 - Occasional13
HP:0000343HP:0000343Long philtrum0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000343HP:0000343Long philtrum0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000343HP:0000343Long philtrum0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040281 - Very frequent57
HP:0000343HP:0000343Long philtrum0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000343HP:0000343Long philtrum0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000343HP:0000343Long philtrum0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0000343HP:0000343Long philtrum0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B.26
HP:0000343HP:0000343Long philtrum0MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiencyHP:0040283 - Occasional6
HP:0000343HP:0000343Long philtrum0MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000343HP:0000343Long philtrum0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0000343HP:0000343Long philtrum0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0000343HP:0000343Long philtrum0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000343HP:0000343Long philtrum0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0000343HP:0000343Long philtrum0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0000343HP:0000343Long philtrum0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional166
HP:0000343HP:0000343Long philtrum0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040282 - Frequent166
HP:0000343HP:0000343Long philtrum0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent5
HP:0000343HP:0000343Long philtrum0MYMX CL E G H10192972652391OMIM:619941
HP:0000343HP:0000343Long philtrum0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0000343HP:0000343Long philtrum0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000343HP:0000343Long philtrum0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000343HP:0000343Long philtrum0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay.48
HP:0000343HP:0000343Long philtrum0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040282 - Frequent48
HP:0000343HP:0000343Long philtrum0NARS2 CL E G H7973126274ORPHA:79134DEND syndromeHP:0040283 - Occasional34
HP:0000343HP:0000343Long philtrum0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25
HP:0000343HP:0000343Long philtrum0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0000343HP:0000343Long philtrum0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional745
HP:0000343HP:0000343Long philtrum0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0000343HP:0000343Long philtrum0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0000343HP:0000343Long philtrum0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare52
HP:0000343HP:0000343Long philtrum0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040283 - Occasional1952
HP:0000343HP:0000343Long philtrum0NFIB CL E G H47817785OMIM:618286Macrocephaly, acquired, with impaired intellectual development.1
HP:0000343HP:0000343Long philtrum0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0000343HP:0000343Long philtrum0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000343HP:0000343Long philtrum0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healingHP:0040283 - Occasional37
HP:0000343HP:0000343Long philtrum0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040281 - Very frequent138
HP:0000343HP:0000343Long philtrum0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0000343HP:0000343Long philtrum0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0000343HP:0000343Long philtrum0NRAS CL E G H48937989OMIM:137550Melanocytic nevus syndrome, congenital.102
HP:0000343HP:0000343Long philtrum0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040281 - Very frequent544
HP:0000343HP:0000343Long philtrum0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000343HP:0000343Long philtrum0NSRP1 CL E G H8408125305OMIM:620001
HP:0000343HP:0000343Long philtrum0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0000343HP:0000343Long philtrum0NXN CL E G H6435918008OMIM:618529Robinow syndrome, autosomal recessive 2.2
HP:0000343HP:0000343Long philtrum0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0000343HP:0000343Long philtrum0OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040282 - Frequent143
HP:0000343HP:0000343Long philtrum0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0000343HP:0000343Long philtrum0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0000343HP:0000343Long philtrum0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0000343HP:0000343Long philtrum0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0000343HP:0000343Long philtrum0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0000343HP:0000343Long philtrum0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040283 - Occasional641
HP:0000343HP:0000343Long philtrum0PCDHGC4 CL E G H560988717OMIM:619880
HP:0000343HP:0000343Long philtrum0PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0000343HP:0000343Long philtrum0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0000343HP:0000343Long philtrum0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0000343HP:0000343Long philtrum0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0PEX26 CL E G H5567022965OMIM:614872Peroxisome biogenesis disorder 7A (zellweger).106
HP:0000343HP:0000343Long philtrum0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000343HP:0000343Long philtrum0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000343HP:0000343Long philtrum0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0000343HP:0000343Long philtrum0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000343HP:0000343Long philtrum0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0000343HP:0000343Long philtrum0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0000343HP:0000343Long philtrum0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000343HP:0000343Long philtrum0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040281 - Very frequent12
HP:0000343HP:0000343Long philtrum0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0000343HP:0000343Long philtrum0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000343HP:0000343Long philtrum0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0000343HP:0000343Long philtrum0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0000343HP:0000343Long philtrum0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent6
HP:0000343HP:0000343Long philtrum0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0000343HP:0000343Long philtrum0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10
HP:0000343HP:0000343Long philtrum0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0000343HP:0000343Long philtrum0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0000343HP:0000343Long philtrum0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent
HP:0000343HP:0000343Long philtrum0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000343HP:0000343Long philtrum0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000343HP:0000343Long philtrum0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0000343HP:0000343Long philtrum0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000343HP:0000343Long philtrum0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0000343HP:0000343Long philtrum0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0000343HP:0000343Long philtrum0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent148
HP:0000343HP:0000343Long philtrum0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalitiesHP:0040283 - Occasional42
HP:0000343HP:0000343Long philtrum0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0000343HP:0000343Long philtrum0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040281 - Very frequent6
HP:0000343HP:0000343Long philtrum0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040282 - Frequent665
HP:0000343HP:0000343Long philtrum0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0000343HP:0000343Long philtrum0PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndrome.948
HP:0000343HP:0000343Long philtrum0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040282 - Frequent58
HP:0000343HP:0000343Long philtrum0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0000343HP:0000343Long philtrum0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040282 - Frequent19
HP:0000343HP:0000343Long philtrum0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0000343HP:0000343Long philtrum0PUS1 CL E G H8032415508ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040281 - Very frequent57
HP:0000343HP:0000343Long philtrum0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0000343HP:0000343Long philtrum0PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 10.11
HP:0000343HP:0000343Long philtrum0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0000343HP:0000343Long philtrum0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0000343HP:0000343Long philtrum0RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0000343HP:0000343Long philtrum0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0000343HP:0000343Long philtrum0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 4.25
HP:0000343HP:0000343Long philtrum0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040283 - Occasional150
HP:0000343HP:0000343Long philtrum0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent16
HP:0000343HP:0000343Long philtrum0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0000343HP:0000343Long philtrum0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0000343HP:0000343Long philtrum0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040281 - Very frequent43
HP:0000343HP:0000343Long philtrum0RIPPLY2 CL E G H13470121390ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional3
HP:0000343HP:0000343Long philtrum0RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040281 - Very frequent11
HP:0000343HP:0000343Long philtrum0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0000343HP:0000343Long philtrum0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0000343HP:0000343Long philtrum0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0000343HP:0000343Long philtrum0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0000343HP:0000343Long philtrum0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000343HP:0000343Long philtrum0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0000343HP:0000343Long philtrum0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000343HP:0000343Long philtrum0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000343HP:0000343Long philtrum0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0000343HP:0000343Long philtrum0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0000343HP:0000343Long philtrum0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0000343HP:0000343Long philtrum0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0000343HP:0000343Long philtrum0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0000343HP:0000343Long philtrum0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0000343HP:0000343Long philtrum0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare1053
HP:0000343HP:0000343Long philtrum0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040281 - Very frequent2
HP:0000343HP:0000343Long philtrum0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia.2
HP:0000343HP:0000343Long philtrum0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000343HP:0000343Long philtrum0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000343HP:0000343Long philtrum0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040282 - Frequent43
HP:0000343HP:0000343Long philtrum0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000343HP:0000343Long philtrum0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000343HP:0000343Long philtrum0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000343HP:0000343Long philtrum0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040282 - Frequent9
HP:0000343HP:0000343Long philtrum0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000343HP:0000343Long philtrum0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent150
HP:0000343HP:0000343Long philtrum0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0000343HP:0000343Long philtrum0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0000343HP:0000343Long philtrum0SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1BHP:0040281 - Very frequent166
HP:0000343HP:0000343Long philtrum0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0000343HP:0000343Long philtrum0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare255
HP:0000343HP:0000343Long philtrum0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0000343HP:0000343Long philtrum0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare29
HP:0000343HP:0000343Long philtrum0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0000343HP:0000343Long philtrum0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040282 - Frequent12
HP:0000343HP:0000343Long philtrum0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108.
HP:0000343HP:0000343Long philtrum0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0000343HP:0000343Long philtrum0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040281 - Very frequent146
HP:0000343HP:0000343Long philtrum0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0000343HP:0000343Long philtrum0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0000343HP:0000343Long philtrum0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0000343HP:0000343Long philtrum0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000343HP:0000343Long philtrum0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000343HP:0000343Long philtrum0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040283 - Occasional15
HP:0000343HP:0000343Long philtrum0SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040283 - Occasional19
HP:0000343HP:0000343Long philtrum0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0000343HP:0000343Long philtrum0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0000343HP:0000343Long philtrum0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0000343HP:0000343Long philtrum0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0000343HP:0000343Long philtrum0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type.6
HP:0000343HP:0000343Long philtrum0SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040281 - Very frequent6
HP:0000343HP:0000343Long philtrum0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent4
HP:0000343HP:0000343Long philtrum0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000343HP:0000343Long philtrum0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000343HP:0000343Long philtrum0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000343HP:0000343Long philtrum0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0000343HP:0000343Long philtrum0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040281 - Very frequent1
HP:0000343HP:0000343Long philtrum0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0000343HP:0000343Long philtrum0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare108
HP:0000343HP:0000343Long philtrum0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000343HP:0000343Long philtrum0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040282 - Frequent21
HP:0000343HP:0000343Long philtrum0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0000343HP:0000343Long philtrum0TAF8 CL E G H12968517300OMIM:619972
HP:0000343HP:0000343Long philtrum0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000343HP:0000343Long philtrum0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000343HP:0000343Long philtrum0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040281 - Very frequent271
HP:0000343HP:0000343Long philtrum0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000343HP:0000343Long philtrum0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0000343HP:0000343Long philtrum0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040281 - Very frequent52
HP:0000343HP:0000343Long philtrum0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0000343HP:0000343Long philtrum0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0000343HP:0000343Long philtrum0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0000343HP:0000343Long philtrum0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000343HP:0000343Long philtrum0TMEM147 CL E G H1043030414OMIM:620075
HP:0000343HP:0000343Long philtrum0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000343HP:0000343Long philtrum0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0000343HP:0000343Long philtrum0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies1
HP:0000343HP:0000343Long philtrum0TNNI2 CL E G H713611946OMIM:601680Arthrogryposis, distal, type 2B.37
HP:0000343HP:0000343Long philtrum0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000343HP:0000343Long philtrum0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0000343HP:0000343Long philtrum0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional108
HP:0000343HP:0000343Long philtrum0TRAPPC4 CL E G H5139919943OMIM:618741NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA1
HP:0000343HP:0000343Long philtrum0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000343HP:0000343Long philtrum0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000343HP:0000343Long philtrum0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000343HP:0000343Long philtrum0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0000343HP:0000343Long philtrum0TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1AHP:0040281 - Very frequent133
HP:0000343HP:0000343Long philtrum0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia.133
HP:0000343HP:0000343Long philtrum0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0000343HP:0000343Long philtrum0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0000343HP:0000343Long philtrum0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0000343HP:0000343Long philtrum0TRPS1 CL E G H722712340ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040281 - Very frequent171
HP:0000343HP:0000343Long philtrum0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0000343HP:0000343Long philtrum0TRPS1 CL E G H722712340OMIM:190351Trichorhinophalangeal syndrome, type III.171
HP:0000343HP:0000343Long philtrum0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000343HP:0000343Long philtrum0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0000343HP:0000343Long philtrum0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0UBR7 CL E G H5514820344OMIM:619189LI-CAMPEAU SYNDROME; LICAS1
HP:0000343HP:0000343Long philtrum0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000343HP:0000343Long philtrum0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000343HP:0000343Long philtrum0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000343HP:0000343Long philtrum0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted.27
HP:0000343HP:0000343Long philtrum0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000343HP:0000343Long philtrum0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000343HP:0000343Long philtrum0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2
HP:0000343HP:0000343Long philtrum0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent136
HP:0000343HP:0000343Long philtrum0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0000343HP:0000343Long philtrum0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0000343HP:0000343Long philtrum0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000343HP:0000343Long philtrum0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14
HP:0000343HP:0000343Long philtrum0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040283 - Occasional5
HP:0000343HP:0000343Long philtrum0YARS2 CL E G H5106724249ORPHA:2598Mitochondrial myopathy and sideroblastic anemiaHP:0040281 - Very frequent45
HP:0000343HP:0000343Long philtrum0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0000343HP:0000343Long philtrum0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0000343HP:0000343Long philtrum0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000343HP:0000343Long philtrum0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (377) :AARS1 ABCC8 ABCC9 ACTA1 ACTB ACTG1 ADAMTSL2 ADNP ADSL AFF4 ALDH6A1 ALG11 ALG13 ALG8 ALG9 ANKRD11 ANTXR1 AP1G1 AP2M1 AP3B1 APC ARHGEF2 ARID1A ARID1B ARSK ARVCF ARX ATN1 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A AVP B3GALT6 B3GAT3 B3GLCT B4GALT1 BAP1 BAZ1B BCL11B BCL7B BCOR BMP1 BMP2 BRAF BRAT1 BRCC3 BRD4 BRF1 BRPF1 BUB1B BUD23 C12ORF57 CAMK2G CAMTA1 CANT1 CASK CASZ1 CBL CCDC8 CCNK CD96 CDC42 CDC6 CDH11 CDH2 CDK10 CHD2 CHD8 CHRNG CHST14 CHST3 CLCF1 CLCN3 CLCN6 CLIP2 CLTC CNOT1 COG1 COL11A1 COL11A2 COL2A1 COMT COX7B CPLX1 CREBBP CRLF1 CRTAP CSGALNACT1 CTCF CTNNB1 CUL7 DHCR7 DLK1 DLL3 DNAJC30 DSE DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 EED EIF2S3 EIF4H ELN EPG5 ERCC6 EXOC2 EXOC7 EXOSC1 EXOSC2 EXT1 EXT2 EXTL3 EZH2 FAR1 FBN1 FBXO11 FGD1 FGF3 FGFR1 FGFR2 FKBP6 FLI1 FLNA FZD2 GABRD GAD1 GJA1 GJA5 GJA8 GLB1 GLIS3 GNE GNPTAB GP1BB GPC6 GTF2I GTF2IRD1 GTF2IRD2 H3-3A H3-3B HDAC8 HES7 HIRA HPDL HRAS HSD17B4 HSPG2 HUWE1 IARS2 IDH1 IFT80 IFT81 IGF1R INPPL1 INTS1 IRX5 JMJD1C KARS1 KAT6B KCNAB2 KCNH1 KCNJ11 KCNJ8 KDM4B KIAA0753 KIF11 KIF7 KIT KLHL41 KMT2A KRAS LFNG LIMK1 LMNB1 LTBP1 LTBP3 LTBP4 LUZP1 MAB21L1 MAB21L2 MADD MAF MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MAPRE2 MARS2 MED12 MEG3 MEGF8 MEIS2 MESP2 METTL23 METTL27 METTL5 MID1 MLXIPL MMP23B MOCS1 MOCS2 MPC1 MRPS28 MTOR MTX2 MUSK MYH3 MYMK MYMX MYO18B MYOD1 NAA10 NALCN NARS2 NBAS NCF1 NEB NEK9 NEXMIF NF1 NFIB NIPBL NLRP1 NOTCH2 NOTCH3 NRAS NSD1 NSD2 NSRP1 NXN OBSL1 OCLN OCRL OSTM1 OTUD6B PAH PCDHGC4 PCLO PDE4D PDHA1 PDPN PEX26 PHIP PIEZO2 PIGB PIGN PIGQ PIGT PKDCC PLAA PLPBP PMM2 POC1A POLR3A POR POU4F1 PPP1CB PPP1R12A PPP1R15B PPP1R21 PPP2R3C PPP2R5D PRDM16 PRKCZ PRKDC PRMT7 PTCH1 PTEN PTH1R PUF60 PUS1 PYCR1 PYCR2 RAB3GAP2 RAC3 RAD21 RAI1 RERE RFC2 RIC1 RIN2 RIPPLY2 RNF135 RNU4ATAC ROR2 RPL10 RREB1 RTL1 SATB2 SC5D SCN1A SEC23A SEC24C SETBP1 SETD5 SHANK3 SHMT2 SIN3A SKI SKIC3 SLC25A24 SLC26A2 SLC2A1 SLC2A10 SLC6A1 SLC6A17 SLC9A7 SMARCA2 SMARCB1 SMC1A SMC3 SMG8 SMOC1 SNAI2 SNRPB SNX14 SOX9 SPECC1L SPEN SPRED2 SRCAP STAG2 STX1A SUZ12 SYNE1 SYNGAP1 TAF1 TAF6 TAF8 TASP1 TBC1D20 TBC1D24 TBCE TBCK TBL2 TBX1 TENM3 TET3 TMEM147 TMEM270 TMEM53 TMEM70 TMEM94 TNNI2 TNPO2 TOR1A TPM3 TRAPPC4 TRIM8 TRIO TRIP11 TRIP12 TRMT10A TRPS1 TTC5 TUBB UBE4B UBR7 UFD1 UGP2 USB1 USP9X VPS37D WARS2 WDR35 WNT5A XYLT1 XYLT2 YARS2 ZC4H2 ZMIZ1 ZNF699

Diseases (388) :OMIM:619691 ORPHA:79134 OMIM:239850 ORPHA:1517 ORPHA:171433 ORPHA:2995 OMIM:243310 OMIM:614583 OMIM:231050 OMIM:615873 OMIM:103050 ORPHA:46 OMIM:616368 ORPHA:444077 OMIM:614105 ORPHA:280071 ORPHA:324422 OMIM:608104 ORPHA:79328 OMIM:608776 ORPHA:261250 ORPHA:2332 OMIM:148050 ORPHA:2067 OMIM:619467 ORPHA:1942 OMIM:608233 ORPHA:261584 OMIM:617523 OMIM:614607 ORPHA:251056 OMIM:135900 OMIM:619698 ORPHA:567 OMIM:300215 OMIM:618494 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 ORPHA:79500 OMIM:617402 ORPHA:198 OMIM:304150 OMIM:125700 ORPHA:536467 OMIM:271640 OMIM:245600 ORPHA:709 OMIM:261540 ORPHA:79332 OMIM:619762 ORPHA:904 OMIM:618092 OMIM:300166 ORPHA:2712 OMIM:614856 ORPHA:261295 OMIM:617877 ORPHA:1340 OMIM:618056 ORPHA:280679 ORPHA:199 ORPHA:444072 OMIM:617333 OMIM:257300 OMIM:218340 OMIM:618522 OMIM:614756 ORPHA:314647 OMIM:251450 OMIM:300749 ORPHA:163937 ORPHA:1606 OMIM:613563 ORPHA:2616 OMIM:614205 OMIM:618147 ORPHA:1308 ORPHA:487796 OMIM:616737 OMIM:613805 OMIM:211380 OMIM:618929 OMIM:617694 OMIM:615032 ORPHA:2990 OMIM:265000 OMIM:601776 ORPHA:2953 ORPHA:263463 OMIM:143095 ORPHA:1545 OMIM:619512 OMIM:619173 OMIM:617854 OMIM:618500 ORPHA:263508 OMIM:228520 OMIM:154780 ORPHA:560 ORPHA:166100 OMIM:200610 ORPHA:90653 OMIM:300887 OMIM:617976 OMIM:618332 OMIM:272430 OMIM:610682 OMIM:618870 ORPHA:363611 OMIM:615502 OMIM:615075 ORPHA:404473 OMIM:273750 OMIM:270400 ORPHA:818 ORPHA:96334 ORPHA:2311 OMIM:615539 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 ORPHA:93271 ORPHA:3447 OMIM:300148 OMIM:123700 OMIM:194050 OMIM:242840 OMIM:214150 OMIM:619306 OMIM:619072 OMIM:619304 OMIM:617763 ORPHA:502 ORPHA:466926 ORPHA:508533 OMIM:277590 ORPHA:438178 OMIM:616154 ORPHA:969 OMIM:102370 OMIM:614185 OMIM:618089 ORPHA:915 ORPHA:2791 OMIM:166250 OMIM:190440 OMIM:207410 ORPHA:2308 ORPHA:555877 ORPHA:93328 OMIM:164745 OMIM:619124 OMIM:257850 OMIM:612474 ORPHA:79255 OMIM:610199 OMIM:269921 OMIM:252500 ORPHA:93329 OMIM:258315 OMIM:619720 OMIM:619721 OMIM:300882 OMIM:619026 OMIM:137550 OMIM:261515 ORPHA:800 OMIM:309590 OMIM:616007 ORPHA:99646 OMIM:617895 OMIM:270450 OMIM:258480 OMIM:618571 OMIM:611174 OMIM:619147 ORPHA:85201 OMIM:611816 ORPHA:420561 OMIM:135500 OMIM:619320 OMIM:619479 OMIM:152950 ORPHA:2526 OMIM:200990 ORPHA:2884 OMIM:605130 ORPHA:319182 OMIM:619179 OMIM:619451 OMIM:617809 OMIM:613177 OMIM:618479 OMIM:615877 OMIM:619004 ORPHA:1272 OMIM:601088 OMIM:157800 OMIM:619087 OMIM:618443 ORPHA:2505 OMIM:616430 ORPHA:93932 OMIM:300895 OMIM:305450 OMIM:614976 ORPHA:261190 OMIM:615942 OMIM:618665 ORPHA:2745 OMIM:252150 OMIM:252160 OMIM:614741 OMIM:618958 ORPHA:457485 OMIM:616638 OMIM:619127 OMIM:208150 OMIM:193700 ORPHA:2053 ORPHA:1358 OMIM:619941 OMIM:616549 OMIM:618975 OMIM:300855 OMIM:616266 OMIM:614800 OMIM:256030 OMIM:617022 ORPHA:363700 OMIM:618286 OMIM:122470 OMIM:615225 ORPHA:955 OMIM:102500 OMIM:130720 OMIM:619695 OMIM:620001 ORPHA:1507 OMIM:618529 OMIM:612921 OMIM:251290 ORPHA:534 OMIM:259720 ORPHA:505237 OMIM:617452 ORPHA:2209 OMIM:619880 OMIM:608027 ORPHA:439822 OMIM:312170 OMIM:614872 OMIM:617991 ORPHA:589905 OMIM:248700 OMIM:618580 ORPHA:2059 OMIM:614080 OMIM:618548 ORPHA:369837 OMIM:615398 OMIM:618821 OMIM:617527 ORPHA:521426 OMIM:617290 ORPHA:79318 OMIM:614813 OMIM:264090 OMIM:617506 OMIM:618820 ORPHA:391408 OMIM:619383 OMIM:618419 ORPHA:457279 OMIM:615966 OMIM:617157 ORPHA:464288 ORPHA:77301 ORPHA:109 OMIM:605309 ORPHA:50945 ORPHA:508488 ORPHA:508498 OMIM:615583 ORPHA:2598 OMIM:612940 OMIM:616420 ORPHA:481152 OMIM:212720 OMIM:618577 OMIM:614701 ORPHA:477817 OMIM:618761 OMIM:613075 ORPHA:217335 ORPHA:137634 OMIM:616651 ORPHA:353298 OMIM:268310 OMIM:300998 ORPHA:459070 ORPHA:251019 OMIM:612313 ORPHA:251028 ORPHA:576283 OMIM:607330 ORPHA:46059 ORPHA:50814 OMIM:607812 OMIM:616078 ORPHA:404440 OMIM:615761 OMIM:606232 OMIM:619121 ORPHA:94065 OMIM:613406 OMIM:222470 OMIM:612289 ORPHA:93298 ORPHA:56304 OMIM:208050 OMIM:616269 ORPHA:457212 OMIM:301024 OMIM:601358 ORPHA:3051 OMIM:614608 OMIM:610759 OMIM:619268 ORPHA:1106 OMIM:117650 ORPHA:397709 OMIM:616354 OMIM:114290 OMIM:145420 ORPHA:1519 OMIM:619312 OMIM:619745 OMIM:619595 OMIM:301022 ORPHA:319332 OMIM:300966 ORPHA:480907 OMIM:617126 OMIM:619972 OMIM:618950 OMIM:615663 OMIM:220500 OMIM:241410 ORPHA:2323 ORPHA:488632 OMIM:615145 OMIM:618798 OMIM:620075 OMIM:619727 OMIM:614052 OMIM:618316 OMIM:601680 OMIM:619556 OMIM:618947 OMIM:618741 OMIM:619428 OMIM:618825 OMIM:617061 ORPHA:476126 ORPHA:93299 OMIM:184260 OMIM:617752 ORPHA:77258 OMIM:190350 OMIM:190351 OMIM:619244 OMIM:619189 OMIM:618744 OMIM:604173 OMIM:300968 ORPHA:480880 OMIM:617710 OMIM:615777 ORPHA:370930 ORPHA:85194 OMIM:314580 OMIM:301041 OMIM:618659 OMIM:619488
 

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