Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormal facial shape (HP:0001999)help
..Starting node
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Coarse facial features (HP:0000280)help
Term ID: 280
Name: Coarse facial features
Synonym: Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies; Rounded and heavy facial features; Thickened facial skin with coarse facial features
Definition: Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Comments:
Reference: HP:0000280
Genes and Diseases:
 
       Child Nodes:
........expandPugilistic facies (HP:0000339) help

 Sister Nodes: 
..expandBird-like facies (HP:0000320) help
..expandCraniofacial disproportion (HP:0005461) help
..expandDoll-like facies (HP:0000295) help
..expandElfin facies (HP:0004428) help
..expandFacial asymmetry (HP:0000324) help
..expandFacial shape deformation (HP:0011334) help
..expandFlat face (HP:0012368) help
..expandLarge face (HP:0100729) help
..expandMoon facies (HP:0500011) help
..expandobsolete Abnormality of the shape of the midface (HP:0430026) help
..expandOval face (HP:0000300) help
..expandRound face (HP:0000311) help
..expandSmall face (HP:0000274) help
..expandSquare face (HP:0000321) help
..expandTriangular face (HP:0000325) 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:0000280HP:0000280Coarse facial features0ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndromeHP:0040282 - Frequent1
HP:0000280HP:0000280Coarse facial features0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0000280HP:0000280Coarse facial features0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040281 - Very frequent254
HP:0000280HP:0000280Coarse facial features0ACER3 CL E G H5533116066OMIM:617762Leukodystrophy, progressive, early childhood-onset.
HP:0000280HP:0000280Coarse facial features0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0000280HP:0000280Coarse facial features0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0000280HP:0000280Coarse facial features0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0000280HP:0000280Coarse facial features0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome.6
HP:0000280HP:0000280Coarse facial features0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0000280HP:0000280Coarse facial features0AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040282 - Frequent76
HP:0000280HP:0000280Coarse facial features0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0000280HP:0000280Coarse facial features0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0000280HP:0000280Coarse facial features0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0000280HP:0000280Coarse facial features0AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 1.95
HP:0000280HP:0000280Coarse facial features0AIP CL E G H9049358ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent95
HP:0000280HP:0000280Coarse facial features0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0000280HP:0000280Coarse facial features0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0000280HP:0000280Coarse facial features0ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome.49
HP:0000280HP:0000280Coarse facial features0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0000280HP:0000280Coarse facial features0AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040282 - Frequent13
HP:0000280HP:0000280Coarse facial features0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0000280HP:0000280Coarse facial features0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000280HP:0000280Coarse facial features0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0000280HP:0000280Coarse facial features0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0000280HP:0000280Coarse facial features0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0000280HP:0000280Coarse facial features0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0000280HP:0000280Coarse facial features0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0000280HP:0000280Coarse facial features0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0000280HP:0000280Coarse facial features0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0000280HP:0000280Coarse facial features0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0000280HP:0000280Coarse facial features0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040281 - Very frequent1
HP:0000280HP:0000280Coarse facial features0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent88
HP:0000280HP:0000280Coarse facial features0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000280HP:0000280Coarse facial features0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent219
HP:0000280HP:0000280Coarse facial features0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0000280HP:0000280Coarse facial features0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent25
HP:0000280HP:0000280Coarse facial features0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 6.25
HP:0000280HP:0000280Coarse facial features0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0000280HP:0000280Coarse facial features0ARSK CL E G H15364225239OMIM:619698MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000280HP:0000280Coarse facial features0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040282 - Frequent166
HP:0000280HP:0000280Coarse facial features0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0000280HP:0000280Coarse facial features0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0000280HP:0000280Coarse facial features0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0000280HP:0000280Coarse facial features0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000280HP:0000280Coarse facial features0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000280HP:0000280Coarse facial features0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0000280HP:0000280Coarse facial features0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent276
HP:0000280HP:0000280Coarse facial features0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0000280HP:0000280Coarse facial features0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0000280HP:0000280Coarse facial features0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040282 - Frequent105
HP:0000280HP:0000280Coarse facial features0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040282 - Frequent13
HP:0000280HP:0000280Coarse facial features0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000280HP:0000280Coarse facial features0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000280HP:0000280Coarse facial features0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0000280HP:0000280Coarse facial features0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0000280HP:0000280Coarse facial features0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome.14
HP:0000280HP:0000280Coarse facial features0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome.45
HP:0000280HP:0000280Coarse facial features0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040283 - Occasional4
HP:0000280HP:0000280Coarse facial features0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0000280HP:0000280Coarse facial features0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1HP:0040284 - Very rare518
HP:0000280HP:0000280Coarse facial features0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type.284
HP:0000280HP:0000280Coarse facial features0COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick typeHP:0040282 - Frequent284
HP:0000280HP:0000280Coarse facial features0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040282 - Frequent284
HP:0000280HP:0000280Coarse facial features0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0000280HP:0000280Coarse facial features0COQ4 CL E G H5111719693OMIM:616276Coenzyme Q10 deficiency, primary, 724
HP:0000280HP:0000280Coarse facial features0CTSA CL E G H54769251ORPHA:351GalactosialidosisHP:0040281 - Very frequent51
HP:0000280HP:0000280Coarse facial features0CTSA CL E G H54769251OMIM:256540Galactosialidosis51
HP:0000280HP:0000280Coarse facial features0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0000280HP:0000280Coarse facial features0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49.6
HP:0000280HP:0000280Coarse facial features0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040283 - Occasional44
HP:0000280HP:0000280Coarse facial features0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0000280HP:0000280Coarse facial features0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0000280HP:0000280Coarse facial features0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0000280HP:0000280Coarse facial features0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000280HP:0000280Coarse facial features0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0000280HP:0000280Coarse facial features0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000280HP:0000280Coarse facial features0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000280HP:0000280Coarse facial features0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0000280HP:0000280Coarse facial features0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities.3
HP:0000280HP:0000280Coarse facial features0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0000280HP:0000280Coarse facial features0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0000280HP:0000280Coarse facial features0FBXO31 CL E G H7979116510OMIM:615979Mental retardation, autosomal recessive 45.8
HP:0000280HP:0000280Coarse facial features0FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome68
HP:0000280HP:0000280Coarse facial features0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent493
HP:0000280HP:0000280Coarse facial features0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0000280HP:0000280Coarse facial features0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome.30
HP:0000280HP:0000280Coarse facial features0FOXE1 CL E G H23043806ORPHA:95713AthyreosisHP:0040281 - Very frequent9
HP:0000280HP:0000280Coarse facial features0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0000280HP:0000280Coarse facial features0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0000280HP:0000280Coarse facial features0FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040281 - Very frequent43
HP:0000280HP:0000280Coarse facial features0GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:0000280HP:0000280Coarse facial features0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0000280HP:0000280Coarse facial features0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040282 - Frequent291
HP:0000280HP:0000280Coarse facial features0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I.120
HP:0000280HP:0000280Coarse facial features0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0000280HP:0000280Coarse facial features0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120
HP:0000280HP:0000280Coarse facial features0GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0000280HP:0000280Coarse facial features0GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0000280HP:0000280Coarse facial features0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0000280HP:0000280Coarse facial features0GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta.240
HP:0000280HP:0000280Coarse facial features0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040281 - Very frequent240
HP:0000280HP:0000280Coarse facial features0GNPTG CL E G H8457223026OMIM:252605Mucolipidosis III gamma.57
HP:0000280HP:0000280Coarse facial features0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0000280HP:0000280Coarse facial features0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0000280HP:0000280Coarse facial features0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000280HP:0000280Coarse facial features0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000280HP:0000280Coarse facial features0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0000280HP:0000280Coarse facial features0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0000280HP:0000280Coarse facial features0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000280HP:0000280Coarse facial features0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000280HP:0000280Coarse facial features0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000280HP:0000280Coarse facial features0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000280HP:0000280Coarse facial features0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000280HP:0000280Coarse facial features0GUSB CL E G H29904696ORPHA:584Mucopolysaccharidosis type 7HP:0040281 - Very frequent54
HP:0000280HP:0000280Coarse facial features0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0000280HP:0000280Coarse facial features0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0000280HP:0000280Coarse facial features0H4C5 CL E G H83674790OMIM:619950
HP:0000280HP:0000280Coarse facial features0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0000280HP:0000280Coarse facial features0HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0000280HP:0000280Coarse facial features0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0000280HP:0000280Coarse facial features0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0000280HP:0000280Coarse facial features0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000280HP:0000280Coarse facial features0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000280HP:0000280Coarse facial features0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0000280HP:0000280Coarse facial features0HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040282 - Frequent55
HP:0000280HP:0000280Coarse facial features0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000280HP:0000280Coarse facial features0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040283 - Occasional113
HP:0000280HP:0000280Coarse facial features0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000280HP:0000280Coarse facial features0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040281 - Very frequent86
HP:0000280HP:0000280Coarse facial features0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040281 - Very frequent86
HP:0000280HP:0000280Coarse facial features0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0000280HP:0000280Coarse facial features0IDUA CL E G H34255391OMIM:607014Hurler syndrome.HP:0003593 - Infantile onset115
HP:0000280HP:0000280Coarse facial features0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0000280HP:0000280Coarse facial features0IDUA CL E G H34255391ORPHA:93476Hurler-Scheie syndromeHP:0040281 - Very frequent115
HP:0000280HP:0000280Coarse facial features0IDUA CL E G H34255391ORPHA:93474Scheie syndromeHP:0040282 - Frequent115
HP:0000280HP:0000280Coarse facial features0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0000280HP:0000280Coarse facial features0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0000280HP:0000280Coarse facial features0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040283 - Occasional229
HP:0000280HP:0000280Coarse facial features0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0000280HP:0000280Coarse facial features0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040281 - Very frequent141
HP:0000280HP:0000280Coarse facial features0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0000280HP:0000280Coarse facial features0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0000280HP:0000280Coarse facial features0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040281 - Very frequent23
HP:0000280HP:0000280Coarse facial features0KCNN3 CL E G H37826292OMIM:618658ZIMMERMANN-LABAND SYNDROME 3; ZLS37
HP:0000280HP:0000280Coarse facial features0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0000280HP:0000280Coarse facial features0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0000280HP:0000280Coarse facial features0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040282 - Frequent
HP:0000280HP:0000280Coarse facial features0KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0000280HP:0000280Coarse facial features0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent196
HP:0000280HP:0000280Coarse facial features0KRAS CL E G H38456407OMIM:615278Cardiofaciocutaneous syndrome 2.196
HP:0000280HP:0000280Coarse facial features0L1CAM CL E G H38976470ORPHA:2182Hydrocephalus with stenosis of the aqueduct of SylviusHP:0040283 - Occasional134
HP:0000280HP:0000280Coarse facial features0LAMTOR2 CL E G H2895629796OMIM:610798Immunodeficiency due to defect in mapbp-interacting protein.1
HP:0000280HP:0000280Coarse facial features0LAMTOR2 CL E G H2895629796ORPHA:90023Primary immunodeficiency syndrome due to LAMTOR2 deficiencyHP:0040281 - Very frequent1
HP:0000280HP:0000280Coarse facial features0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0LTBP1 CL E G H40526714OMIM:619451CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000280HP:0000280Coarse facial features0LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0000280HP:0000280Coarse facial features0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0000280HP:0000280Coarse facial features0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.136
HP:0000280HP:0000280Coarse facial features0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040282 - Frequent136
HP:0000280HP:0000280Coarse facial features0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent134
HP:0000280HP:0000280Coarse facial features0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent178
HP:0000280HP:0000280Coarse facial features0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent11
HP:0000280HP:0000280Coarse facial features0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000280HP:0000280Coarse facial features0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0000280HP:0000280Coarse facial features0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040283 - Occasional78
HP:0000280HP:0000280Coarse facial features0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0000280HP:0000280Coarse facial features0MED12 CL E G H996811957ORPHA:293707Blepharophimosis-intellectual disability syndrome, MKB typeHP:0040282 - Frequent228
HP:0000280HP:0000280Coarse facial features0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0000280HP:0000280Coarse facial features0MEN1 CL E G H42217010ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent462
HP:0000280HP:0000280Coarse facial features0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000280HP:0000280Coarse facial features0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000280HP:0000280Coarse facial features0MMP14 CL E G H43237160OMIM:277950Winchester syndrome.2
HP:0000280HP:0000280Coarse facial features0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0000280HP:0000280Coarse facial features0MPL CL E G H43527217ORPHA:3319Congenital amegakaryocytic thrombocytopeniaHP:0040282 - Frequent97
HP:0000280HP:0000280Coarse facial features0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000280HP:0000280Coarse facial features0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32HP:0040284 - Very rare1
HP:0000280HP:0000280Coarse facial features0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040282 - Frequent
HP:0000280HP:0000280Coarse facial features0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0000280HP:0000280Coarse facial features0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000280HP:0000280Coarse facial features0NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2HP:0040282 - Frequent47
HP:0000280HP:0000280Coarse facial features0NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0000280HP:0000280Coarse facial features0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB.72
HP:0000280HP:0000280Coarse facial features0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0000280HP:0000280Coarse facial features0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0000280HP:0000280Coarse facial features0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040282 - Frequent43
HP:0000280HP:0000280Coarse facial features0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040281 - Very frequent43
HP:0000280HP:0000280Coarse facial features0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0000280HP:0000280Coarse facial features0NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040281 - Very frequent43
HP:0000280HP:0000280Coarse facial features0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040282 - Frequent1952
HP:0000280HP:0000280Coarse facial features0NKX2-1 CL E G H708011825ORPHA:95713AthyreosisHP:0040281 - Very frequent51
HP:0000280HP:0000280Coarse facial features0NKX2-5 CL E G H14822488ORPHA:95713AthyreosisHP:0040281 - Very frequent90
HP:0000280HP:0000280Coarse facial features0NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopiaHP:0040281 - Very frequent90
HP:0000280HP:0000280Coarse facial features0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000280HP:0000280Coarse facial features0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0000280HP:0000280Coarse facial features0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040282 - Frequent138
HP:0000280HP:0000280Coarse facial features0NRCAM CL E G H48977994OMIM:6198332
HP:0000280HP:0000280Coarse facial features0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040281 - Very frequent544
HP:0000280HP:0000280Coarse facial features0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0000280HP:0000280Coarse facial features0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000280HP:0000280Coarse facial features0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000280HP:0000280Coarse facial features0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000280HP:0000280Coarse facial features0PAX8 CL E G H78498622ORPHA:95713AthyreosisHP:0040281 - Very frequent63
HP:0000280HP:0000280Coarse facial features0PAX8 CL E G H78498622ORPHA:95712Thyroid ectopiaHP:0040281 - Very frequent63
HP:0000280HP:0000280Coarse facial features0PAX8 CL E G H78498622ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent63
HP:0000280HP:0000280Coarse facial features0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040282 - Frequent113
HP:0000280HP:0000280Coarse facial features0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0000280HP:0000280Coarse facial features0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0000280HP:0000280Coarse facial features0PHF6 CL E G H8429518145ORPHA:127Borjeson-Forssman-Lehmann syndromeHP:0040281 - Very frequent29
HP:0000280HP:0000280Coarse facial features0PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome.29
HP:0000280HP:0000280Coarse facial features0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0000280HP:0000280Coarse facial features0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0000280HP:0000280Coarse facial features0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000280HP:0000280Coarse facial features0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000280HP:0000280Coarse facial features0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0000280HP:0000280Coarse facial features0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040282 - Frequent37
HP:0000280HP:0000280Coarse facial features0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040282 - Frequent37
HP:0000280HP:0000280Coarse facial features0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0000280HP:0000280Coarse facial features0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0000280HP:0000280Coarse facial features0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000280HP:0000280Coarse facial features0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000280HP:0000280Coarse facial features0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0000280HP:0000280Coarse facial features0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0000280HP:0000280Coarse facial features0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0000280HP:0000280Coarse facial features0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040282 - Frequent
HP:0000280HP:0000280Coarse facial features0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0000280HP:0000280Coarse facial features0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0000280HP:0000280Coarse facial features0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000280HP:0000280Coarse facial features0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 12
HP:0000280HP:0000280Coarse facial features0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0000280HP:0000280Coarse facial features0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0000280HP:0000280Coarse facial features0PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0000280HP:0000280Coarse facial features0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040281 - Very frequent1
HP:0000280HP:0000280Coarse facial features0RBMX CL E G H273169910OMIM:300238MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS112
HP:0000280HP:0000280Coarse facial features0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0RIN2 CL E G H5445318750OMIM:613075Macs syndrome.43
HP:0000280HP:0000280Coarse facial features0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040281 - Very frequent43
HP:0000280HP:0000280Coarse facial features0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000280HP:0000280Coarse facial features0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0000280HP:0000280Coarse facial features0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040281 - Very frequent65
HP:0000280HP:0000280Coarse facial features0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0000280HP:0000280Coarse facial features0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040284 - Very rare143
HP:0000280HP:0000280Coarse facial features0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040281 - Very frequent60
HP:0000280HP:0000280Coarse facial features0SGSH CL E G H644810818OMIM:252900Mucopolysaccharidosis type IIIA.97
HP:0000280HP:0000280Coarse facial features0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000280HP:0000280Coarse facial features0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040281 - Very frequent134
HP:0000280HP:0000280Coarse facial features0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0000280HP:0000280Coarse facial features0SLC26A4 CL E G H51728818ORPHA:95713AthyreosisHP:0040281 - Very frequent274
HP:0000280HP:0000280Coarse facial features0SLC26A4 CL E G H51728818ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent274
HP:0000280HP:0000280Coarse facial features0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0000280HP:0000280Coarse facial features0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0000280HP:0000280Coarse facial features0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040281 - Very frequent71
HP:0000280HP:0000280Coarse facial features0SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040282 - Frequent13
HP:0000280HP:0000280Coarse facial features0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent617
HP:0000280HP:0000280Coarse facial features0SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4.617
HP:0000280HP:0000280Coarse facial features0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent87
HP:0000280HP:0000280Coarse facial features0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 3.87
HP:0000280HP:0000280Coarse facial features0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent1
HP:0000280HP:0000280Coarse facial features0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent47
HP:0000280HP:0000280Coarse facial features0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0000280HP:0000280Coarse facial features0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040281 - Very frequent14
HP:0000280HP:0000280Coarse facial features0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0000280HP:0000280Coarse facial features0SOST CL E G H5096413771ORPHA:1513Craniodiaphyseal dysplasiaHP:0040281 - Very frequent26
HP:0000280HP:0000280Coarse facial features0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent14
HP:0000280HP:0000280Coarse facial features0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000280HP:0000280Coarse facial features0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000280HP:0000280Coarse facial features0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000280HP:0000280Coarse facial features0STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome.110
HP:0000280HP:0000280Coarse facial features0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0000280HP:0000280Coarse facial features0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040282 - Frequent80
HP:0000280HP:0000280Coarse facial features0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0000280HP:0000280Coarse facial features0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000280HP:0000280Coarse facial features0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000280HP:0000280Coarse facial features0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0000280HP:0000280Coarse facial features0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000280HP:0000280Coarse facial features0TBC1D2B CL E G H2310229183OMIM:619323NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0000280HP:0000280Coarse facial features0TBC1D7 CL E G H5125621066OMIM:248000Macrocephaly/megalencephaly syndrome, autosomal recessive.4
HP:0000280HP:0000280Coarse facial features0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3.13
HP:0000280HP:0000280Coarse facial features0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040282 - Frequent13
HP:0000280HP:0000280Coarse facial features0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0000280HP:0000280Coarse facial features0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0000280HP:0000280Coarse facial features0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000280HP:0000280Coarse facial features0THPO CL E G H706611795ORPHA:3319Congenital amegakaryocytic thrombocytopeniaHP:0040282 - Frequent23
HP:0000280HP:0000280Coarse facial features0TMEM147 CL E G H1043030414OMIM:620075
HP:0000280HP:0000280Coarse facial features0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000280HP:0000280Coarse facial features0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000280HP:0000280Coarse facial features0TSHR CL E G H725312373ORPHA:95713AthyreosisHP:0040281 - Very frequent97
HP:0000280HP:0000280Coarse facial features0TSHR CL E G H725312373ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent97
HP:0000280HP:0000280Coarse facial features0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040281 - Very frequent1
HP:0000280HP:0000280Coarse facial features0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0000280HP:0000280Coarse facial features0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000280HP:0000280Coarse facial features0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20
HP:0000280HP:0000280Coarse facial features0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8
HP:0000280HP:0000280Coarse facial features0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0000280HP:0000280Coarse facial features0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0000280HP:0000280Coarse facial features0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0000280HP:0000280Coarse facial features0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0000280HP:0000280Coarse facial features0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000280HP:0000339Pugilistic facies1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0000280HP:0000339Pugilistic facies1FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome.68


Genes (229) :ABCA5 ABCC9 ACER3 ACTB ACTG1 ADNP AFF4 AGA AIFM1 AIMP1 AIP ALG13 ALG14 ANTXR2 AP1S2 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARID1A ARID1B ARID2 ARSB ARSK ARX ATP6V1B2 ATRX BAP1 BAZ1B BCL7B BCORL1 BRAF BRCA1 BSCL2 BUD23 C12ORF57 CARS1 CCDC47 CDKN1C CEP120 CHD4 CLCN4 CLIC2 CLIP2 CNP CNTNAP2 COL2A1 COQ4 CTSA CUL4B DENND5A DNAJC30 DNMT3A DPF2 DYM EHMT1 EIF4H ELN ERCC2 ERCC3 EXT2 EXTL3 FAR1 FBXO31 FHL1 FKBP6 FLNA FMR1 FOXE1 FTO FUCA1 GALNS GJA1 GLA GLB1 GNE GNPTAB GNPTG GNS GPC3 GPC4 GPR101 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUSB H19-ICR H4C5 HDAC4 HEXB HGSNAT HNRNPK HPGD HRAS HS2ST1 IDS IDUA IGF2 INSR KAT6B KCNH1 KCNJ8 KCNN3 KCNQ1 KCNQ1OT1 KIF15 KLHL15 KRAS L1CAM LAMTOR2 LIMK1 LTBP1 LYSET MAGEL2 MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MBD5 MCOLN1 MCTP2 MED12 MEN1 METTL27 MLXIPL MMP14 MMP2 MPL MPLKIP MRPS34 MYSM1 NAA10 NAGA NAGLU NANS NCF1 NEU1 NF1 NKX2-1 NKX2-5 NMNAT1 NOTCH2 NRCAM NSD1 OFD1 OTUD5 P4HTM PACS2 PAX8 PDE4D PGAP2 PGAP3 PHF6 PIGA PIGB PIGF PIGL PIGN PIGO PIGQ PIGS PIGV PIGW PIGY PIK3C2A PLAA PPP1R21 PPP3CA PTCH1 PTCH2 PUS3 RBMX RFC2 RIN2 RNF113A RPS6KA3 SETBP1 SETD2 SGSH SH3PXD2B SLC17A5 SLC26A4 SLC35A2 SLC35C1 SLCO2A1 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SNX14 SOST SOX11 SOX4 SPEN SPRED2 SPTBN1 STAT3 STX1A SUFU SUMF1 SVBP TARS1 TBC1D24 TBC1D2B TBC1D7 TBCK TBL2 TCF4 TFE3 THPO TMEM147 TMEM270 TMEM53 TNPO2 TSHR VPS33A VPS37D WAC WDR26 WDR81 XYLT1 ZNF148 ZNF699

Diseases (237) :ORPHA:2026 OMIM:239850 ORPHA:1517 OMIM:617762 ORPHA:2995 OMIM:615873 OMIM:616368 OMIM:208400 ORPHA:93 OMIM:300232 OMIM:260600 ORPHA:963 OMIM:102200 ORPHA:99725 OMIM:300884 OMIM:619031 OMIM:228600 ORPHA:2176 ORPHA:85335 OMIM:304340 OMIM:608233 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 ORPHA:821 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:617808 OMIM:253200 OMIM:619698 ORPHA:2508 OMIM:300004 ORPHA:79500 OMIM:616455 OMIM:309580 OMIM:619762 ORPHA:904 OMIM:301029 ORPHA:1340 OMIM:115150 OMIM:617883 ORPHA:363400 ORPHA:1777 ORPHA:33364 OMIM:618268 OMIM:130650 OMIM:616300 OMIM:617159 OMIM:300114 ORPHA:324410 OMIM:619071 OMIM:610042 OMIM:151210 ORPHA:93346 ORPHA:94068 OMIM:271700 OMIM:616276 ORPHA:351 OMIM:256540 OMIM:300354 OMIM:617281 ORPHA:404443 OMIM:618027 OMIM:223800 ORPHA:239 OMIM:610253 OMIM:616682 OMIM:617425 ORPHA:508533 OMIM:616154 OMIM:615979 OMIM:300280 ORPHA:1826 OMIM:305620 OMIM:300624 ORPHA:95713 OMIM:612938 OMIM:230000 ORPHA:349 OMIM:253000 OMIM:218400 ORPHA:324 OMIM:230500 OMIM:230600 OMIM:253010 OMIM:269921 ORPHA:3166 OMIM:252500 OMIM:252600 ORPHA:576 OMIM:252605 OMIM:252940 ORPHA:373 OMIM:312870 OMIM:300942 ORPHA:584 OMIM:253220 OMIM:619950 OMIM:600430 OMIM:268800 ORPHA:309155 OMIM:252930 ORPHA:352665 ORPHA:453504 OMIM:259100 ORPHA:2796 OMIM:218040 ORPHA:3071 OMIM:619194 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 ORPHA:93473 ORPHA:93476 ORPHA:93474 OMIM:262190 ORPHA:769 OMIM:606170 ORPHA:85201 ORPHA:420561 OMIM:135500 OMIM:618658 ORPHA:261323 OMIM:300982 OMIM:615278 ORPHA:2182 OMIM:610798 ORPHA:90023 OMIM:619451 OMIM:619345 OMIM:615547 OMIM:248500 ORPHA:309282 OMIM:619087 ORPHA:228402 ORPHA:578 ORPHA:1596 ORPHA:293707 OMIM:300895 OMIM:277950 OMIM:259600 ORPHA:3319 OMIM:617664 ORPHA:508542 ORPHA:276432 OMIM:300855 ORPHA:79280 OMIM:609242 OMIM:252920 OMIM:610442 ORPHA:93400 ORPHA:93399 OMIM:256550 ORPHA:812 ORPHA:363700 ORPHA:95712 OMIM:619260 OMIM:102500 ORPHA:955 OMIM:619833 OMIM:300209 OMIM:301056 OMIM:618493 OMIM:618067 ORPHA:95720 ORPHA:439822 ORPHA:247262 ORPHA:127 OMIM:301900 OMIM:300868 OMIM:301072 OMIM:618580 OMIM:619356 ORPHA:2059 ORPHA:280633 OMIM:614080 OMIM:618548 OMIM:618143 ORPHA:557003 OMIM:618440 OMIM:617527 OMIM:619383 OMIM:617711 OMIM:109400 OMIM:617051 ORPHA:488627 OMIM:300238 OMIM:613075 ORPHA:217335 OMIM:303600 ORPHA:192 OMIM:269150 ORPHA:798 OMIM:252900 OMIM:249420 ORPHA:137834 OMIM:269920 OMIM:300896 OMIM:266265 ORPHA:99843 OMIM:614609 OMIM:614608 OMIM:616938 ORPHA:397709 OMIM:616354 ORPHA:1513 OMIM:619312 OMIM:619745 OMIM:619475 OMIM:147060 ORPHA:585 OMIM:272200 OMIM:618569 OMIM:220500 OMIM:619323 OMIM:248000 OMIM:616900 ORPHA:488632 ORPHA:2896 OMIM:610954 OMIM:301066 OMIM:620075 OMIM:619727 OMIM:619556 ORPHA:505248 OMIM:617303 OMIM:616708 ORPHA:513456 OMIM:617616 OMIM:610185 OMIM:615777 OMIM:617260 OMIM:619488
 

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