Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nose (HP:0000366)help
Parent Node:
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Abnormal nasal bridge morphology (HP:0000422)help
..Starting node
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Depressed nasal bridge (HP:0005280)help
Term ID: 5280
Name: Depressed nasal bridge
Synonym: Concave bridge of nose; Concave nasal bridge; Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Depressed nasal root/bridge; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge
Definition: Posterior positioning of the nasal root in relation to the overall facial profile for age.
Comments:
Reference: HP:0005280
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent nasal bridge (HP:0005285) help
..expandHypoplastic nasal bridge (HP:0005281) help
..expandNarrow nasal bridge (HP:0000446) help
..expandProminent nasal bridge (HP:0000426) help
..expandShort nasal bridge (HP:0003194) help
..expandWide nasal bridge (HP:0000431) 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:0005280HP:0005280Depressed nasal bridge0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0005280HP:0005280Depressed nasal bridge0ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecansHP:0040284 - Very rare34
HP:0005280HP:0005280Depressed nasal bridge0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040282 - Frequent120
HP:0005280HP:0005280Depressed nasal bridge0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0005280HP:0005280Depressed nasal bridge0ACSL4 CL E G H21823571ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040281 - Very frequent19
HP:0005280HP:0005280Depressed nasal bridge0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0005280HP:0005280Depressed nasal bridge0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 1.63
HP:0005280HP:0005280Depressed nasal bridge0ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040282 - Frequent165
HP:0005280HP:0005280Depressed nasal bridge0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent1
HP:0005280HP:0005280Depressed nasal bridge0ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040282 - Frequent72
HP:0005280HP:0005280Depressed nasal bridge0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040282 - Frequent9
HP:0005280HP:0005280Depressed nasal bridge0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36.9
HP:0005280HP:0005280Depressed nasal bridge0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 9.5
HP:0005280HP:0005280Depressed nasal bridge0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0005280HP:0005280Depressed nasal bridge0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0005280HP:0005280Depressed nasal bridge0AGL CL E G H178321OMIM:232400Glycogen storage disease III.216
HP:0005280HP:0005280Depressed nasal bridge0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040283 - Occasional36
HP:0005280HP:0005280Depressed nasal bridge0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0005280HP:0005280Depressed nasal bridge0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040283 - Occasional60
HP:0005280HP:0005280Depressed nasal bridge0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0005280HP:0005280Depressed nasal bridge0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0005280HP:0005280Depressed nasal bridge0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0005280HP:0005280Depressed nasal bridge0AKT3 CL E G H10000393ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040282 - Frequent19
HP:0005280HP:0005280Depressed nasal bridge0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0005280HP:0005280Depressed nasal bridge0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0005280HP:0005280Depressed nasal bridge0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0005280HP:0005280Depressed nasal bridge0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0005280HP:0005280Depressed nasal bridge0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2.132
HP:0005280HP:0005280Depressed nasal bridge0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040281 - Very frequent132
HP:0005280HP:0005280Depressed nasal bridge0ALX4 CL E G H60529450OMIM:609597Parietal foramina 2HP:0040283 - Occasional132
HP:0005280HP:0005280Depressed nasal bridge0AMMECR1 CL E G H9949467ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040281 - Very frequent2
HP:0005280HP:0005280Depressed nasal bridge0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0005280HP:0005280Depressed nasal bridge0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0005280HP:0005280Depressed nasal bridge0ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasiaHP:0040281 - Very frequent164
HP:0005280HP:0005280Depressed nasal bridge0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040281 - Very frequent8
HP:0005280HP:0005280Depressed nasal bridge0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0005280HP:0005280Depressed nasal bridge0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0005280HP:0005280Depressed nasal bridge0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 2.88
HP:0005280HP:0005280Depressed nasal bridge0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0005280HP:0005280Depressed nasal bridge0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0005280HP:0005280Depressed nasal bridge0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0005280HP:0005280Depressed nasal bridge0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 6.25
HP:0005280HP:0005280Depressed nasal bridge0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0005280HP:0005280Depressed nasal bridge0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0005280HP:0005280Depressed nasal bridge0ARSL CL E G H415719OMIM:302950Chondrodysplasia punctata 1, X-linked recessive.
HP:0005280HP:0005280Depressed nasal bridge0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0005280HP:0005280Depressed nasal bridge0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0005280HP:0005280Depressed nasal bridge0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040283 - Occasional145
HP:0005280HP:0005280Depressed nasal bridge0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0005280HP:0005280Depressed nasal bridge0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0005280HP:0005280Depressed nasal bridge0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0005280HP:0005280Depressed nasal bridge0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0005280HP:0005280Depressed nasal bridge0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0005280HP:0005280Depressed nasal bridge0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0005280HP:0005280Depressed nasal bridge0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0005280HP:0005280Depressed nasal bridge0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0005280HP:0005280Depressed nasal bridge0BBS7 CL E G H5521218758OMIM:615984BARDET-BIEDL SYNDROME 7; BBS766
HP:0005280HP:0005280Depressed nasal bridge0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0005280HP:0005280Depressed nasal bridge0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0005280HP:0005280Depressed nasal bridge0BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndromeHP:0040283 - Occasional13
HP:0005280HP:0005280Depressed nasal bridge0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0005280HP:0005280Depressed nasal bridge0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional385
HP:0005280HP:0005280Depressed nasal bridge0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0005280HP:0005280Depressed nasal bridge0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0005280HP:0005280Depressed nasal bridge0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0005280HP:0005280Depressed nasal bridge0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0005280HP:0005280Depressed nasal bridge0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0005280HP:0005280Depressed nasal bridge0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0005280HP:0005280Depressed nasal bridge0CACNA1C CL E G H7751390OMIM:620029572
HP:0005280HP:0005280Depressed nasal bridge0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome.572
HP:0005280HP:0005280Depressed nasal bridge0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent1
HP:0005280HP:0005280Depressed nasal bridge0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0005280HP:0005280Depressed nasal bridge0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent85
HP:0005280HP:0005280Depressed nasal bridge0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare118
HP:0005280HP:0005280Depressed nasal bridge0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0005280HP:0005280Depressed nasal bridge0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0005280HP:0005280Depressed nasal bridge0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0005280HP:0005280Depressed nasal bridge0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent147
HP:0005280HP:0005280Depressed nasal bridge0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040282 - Frequent33
HP:0005280HP:0005280Depressed nasal bridge0CCND2 CL E G H8941583ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040282 - Frequent11
HP:0005280HP:0005280Depressed nasal bridge0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0005280HP:0005280Depressed nasal bridge0CDC42BPB CL E G H95781738OMIM:619841
HP:0005280HP:0005280Depressed nasal bridge0CDCA7 CL E G H8387914628ORPHA:2268ICF syndromeHP:0040282 - Frequent4
HP:0005280HP:0005280Depressed nasal bridge0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 3.4
HP:0005280HP:0005280Depressed nasal bridge0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0005280HP:0005280Depressed nasal bridge0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0005280HP:0005280Depressed nasal bridge0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0005280HP:0005280Depressed nasal bridge0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0005280HP:0005280Depressed nasal bridge0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare405
HP:0005280HP:0005280Depressed nasal bridge0CDKN1C CL E G H10281786ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent114
HP:0005280HP:0005280Depressed nasal bridge0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies.114
HP:0005280HP:0005280Depressed nasal bridge0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0005280HP:0005280Depressed nasal bridge0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0005280HP:0005280Depressed nasal bridge0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional515
HP:0005280HP:0005280Depressed nasal bridge0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0005280HP:0005280Depressed nasal bridge0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040283 - Occasional4
HP:0005280HP:0005280Depressed nasal bridge0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis.2
HP:0005280HP:0005280Depressed nasal bridge0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0005280HP:0005280Depressed nasal bridge0COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent215
HP:0005280HP:0005280Depressed nasal bridge0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0005280HP:0005280Depressed nasal bridge0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0005280HP:0005280Depressed nasal bridge0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040281 - Very frequent215
HP:0005280HP:0005280Depressed nasal bridge0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II.215
HP:0005280HP:0005280Depressed nasal bridge0COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent222
HP:0005280HP:0005280Depressed nasal bridge0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040281 - Very frequent222
HP:0005280HP:0005280Depressed nasal bridge0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia222
HP:0005280HP:0005280Depressed nasal bridge0COL11A2 CL E G H13022187OMIM:184840Stickler syndrome, type III222
HP:0005280HP:0005280Depressed nasal bridge0COL18A1 CL E G H807812195ORPHA:1571Knobloch syndromeHP:0040283 - Occasional177
HP:0005280HP:0005280Depressed nasal bridge0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0005280HP:0005280Depressed nasal bridge0COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040282 - Frequent373
HP:0005280HP:0005280Depressed nasal bridge0COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0005280HP:0005280Depressed nasal bridge0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040281 - Very frequent284
HP:0005280HP:0005280Depressed nasal bridge0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284
HP:0005280HP:0005280Depressed nasal bridge0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040282 - Frequent284
HP:0005280HP:0005280Depressed nasal bridge0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0005280HP:0005280Depressed nasal bridge0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I.284
HP:0005280HP:0005280Depressed nasal bridge0COL9A3 CL E G H12992219OMIM:620022137
HP:0005280HP:0005280Depressed nasal bridge0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0005280HP:0005280Depressed nasal bridge0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0005280HP:0005280Depressed nasal bridge0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0005280HP:0005280Depressed nasal bridge0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent
HP:0005280HP:0005280Depressed nasal bridge0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0005280HP:0005280Depressed nasal bridge0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0005280HP:0005280Depressed nasal bridge0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0005280HP:0005280Depressed nasal bridge0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0005280HP:0005280Depressed nasal bridge0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0005280HP:0005280Depressed nasal bridge0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0005280HP:0005280Depressed nasal bridge0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0005280HP:0005280Depressed nasal bridge0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0005280HP:0005280Depressed nasal bridge0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040282 - Frequent72
HP:0005280HP:0005280Depressed nasal bridge0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0005280HP:0005280Depressed nasal bridge0DICER1 CL E G H2340517098OMIM:618272Global developmental delay, lung cysts, overgrowth, and wilms tumor.670
HP:0005280HP:0005280Depressed nasal bridge0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0005280HP:0005280Depressed nasal bridge0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0005280HP:0005280Depressed nasal bridge0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0005280HP:0005280Depressed nasal bridge0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0005280HP:0005280Depressed nasal bridge0DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0005280HP:0005280Depressed nasal bridge0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0005280HP:0005280Depressed nasal bridge0DNMT3B CL E G H17892979ORPHA:2268ICF syndromeHP:0040282 - Frequent79
HP:0005280HP:0005280Depressed nasal bridge0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome.79
HP:0005280HP:0005280Depressed nasal bridge0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2.18
HP:0005280HP:0005280Depressed nasal bridge0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent91
HP:0005280HP:0005280Depressed nasal bridge0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0005280HP:0005280Depressed nasal bridge0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040282 - Frequent3
HP:0005280HP:0005280Depressed nasal bridge0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair.3
HP:0005280HP:0005280Depressed nasal bridge0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0005280HP:0005280Depressed nasal bridge0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0005280HP:0005280Depressed nasal bridge0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0005280HP:0005280Depressed nasal bridge0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional121
HP:0005280HP:0005280Depressed nasal bridge0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional11
HP:0005280HP:0005280Depressed nasal bridge0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional4
HP:0005280HP:0005280Depressed nasal bridge0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0005280HP:0005280Depressed nasal bridge0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0005280HP:0005280Depressed nasal bridge0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0005280HP:0005280Depressed nasal bridge0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0005280HP:0005280Depressed nasal bridge0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0005280HP:0005280Depressed nasal bridge0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent304
HP:0005280HP:0005280Depressed nasal bridge0DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI.
HP:0005280HP:0005280Depressed nasal bridge0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly.7
HP:0005280HP:0005280Depressed nasal bridge0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0005280HP:0005280Depressed nasal bridge0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0005280HP:0005280Depressed nasal bridge0EDAR CL E G H109132895OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.86
HP:0005280HP:0005280Depressed nasal bridge0EDARADD CL E G H12817814341OMIM:224900Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0005280HP:0005280Depressed nasal bridge0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0005280HP:0005280Depressed nasal bridge0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome.4
HP:0005280HP:0005280Depressed nasal bridge0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 38.60
HP:0005280HP:0005280Depressed nasal bridge0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IBHP:0040283 - Occasional45
HP:0005280HP:0005280Depressed nasal bridge0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0005280HP:0005280Depressed nasal bridge0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0005280HP:0005280Depressed nasal bridge0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0005280HP:0005280Depressed nasal bridge0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0005280HP:0005280Depressed nasal bridge0ERF CL E G H20773444OMIM:617180Chitayat syndrome.12
HP:0005280HP:0005280Depressed nasal bridge0ERF CL E G H20773444OMIM:600775Craniosynostosis 412
HP:0005280HP:0005280Depressed nasal bridge0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0005280HP:0005280Depressed nasal bridge0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0005280HP:0005280Depressed nasal bridge0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0005280HP:0005280Depressed nasal bridge0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0005280HP:0005280Depressed nasal bridge0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities.3
HP:0005280HP:0005280Depressed nasal bridge0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0005280HP:0005280Depressed nasal bridge0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent135
HP:0005280HP:0005280Depressed nasal bridge0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0005280HP:0005280Depressed nasal bridge0FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0005280HP:0005280Depressed nasal bridge0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040283 - Occasional7
HP:0005280HP:0005280Depressed nasal bridge0FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0005280HP:0005280Depressed nasal bridge0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent114
HP:0005280HP:0005280Depressed nasal bridge0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant.1361
HP:0005280HP:0005280Depressed nasal bridge0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0005280HP:0005280Depressed nasal bridge0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0005280HP:0005280Depressed nasal bridge0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional3
HP:0005280HP:0005280Depressed nasal bridge0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional17
HP:0005280HP:0005280Depressed nasal bridge0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndromeHP:0040281 - Very frequent172
HP:0005280HP:0005280Depressed nasal bridge0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional172
HP:0005280HP:0005280Depressed nasal bridge0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0005280HP:0005280Depressed nasal bridge0FGFR1 CL E G H22603688OMIM:101600Pfeiffer syndrome.172
HP:0005280HP:0005280Depressed nasal bridge0FGFR1 CL E G H22603688ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent172
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040281 - Very frequent175
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H22633689OMIM:101600Pfeiffer syndrome.175
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H22633689ORPHA:93258Pfeiffer syndrome type 1HP:0040281 - Very frequent175
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2HP:0040281 - Very frequent175
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3HP:0040281 - Very frequent175
HP:0005280HP:0005280Depressed nasal bridge0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0005280HP:0005280Depressed nasal bridge0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0005280HP:0005280Depressed nasal bridge0FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040282 - Frequent145
HP:0005280HP:0005280Depressed nasal bridge0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0005280HP:0005280Depressed nasal bridge0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0005280HP:0005280Depressed nasal bridge0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0005280HP:0005280Depressed nasal bridge0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2HP:0040281 - Very frequent145
HP:0005280HP:0005280Depressed nasal bridge0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0005280HP:0005280Depressed nasal bridge0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0005280HP:0005280Depressed nasal bridge0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040281 - Very frequent493
HP:0005280HP:0005280Depressed nasal bridge0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040281 - Very frequent493
HP:0005280HP:0005280Depressed nasal bridge0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0005280HP:0005280Depressed nasal bridge0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0005280HP:0005280Depressed nasal bridge0FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III.233
HP:0005280HP:0005280Depressed nasal bridge0FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0005280HP:0005280Depressed nasal bridge0FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040281 - Very frequent233
HP:0005280HP:0005280Depressed nasal bridge0FOCAD CL E G H5491423377OMIM:6199913
HP:0005280HP:0005280Depressed nasal bridge0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional63
HP:0005280HP:0005280Depressed nasal bridge0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040281 - Very frequent177
HP:0005280HP:0005280Depressed nasal bridge0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0005280HP:0005280Depressed nasal bridge0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0005280HP:0005280Depressed nasal bridge0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0005280HP:0005280Depressed nasal bridge0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040282 - Frequent353
HP:0005280HP:0005280Depressed nasal bridge0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040282 - Frequent263
HP:0005280HP:0005280Depressed nasal bridge0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0005280HP:0005280Depressed nasal bridge0FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasiaHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA.
HP:0005280HP:0005280Depressed nasal bridge0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0005280HP:0005280Depressed nasal bridge0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0005280HP:0005280Depressed nasal bridge0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0005280HP:0005280Depressed nasal bridge0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0005280HP:0005280Depressed nasal bridge0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0005280HP:0005280Depressed nasal bridge0GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasiaHP:0040281 - Very frequent68
HP:0005280HP:0005280Depressed nasal bridge0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0005280HP:0005280Depressed nasal bridge0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0005280HP:0005280Depressed nasal bridge0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040283 - Occasional120
HP:0005280HP:0005280Depressed nasal bridge0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0005280HP:0005280Depressed nasal bridge0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0005280HP:0005280Depressed nasal bridge0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism.143
HP:0005280HP:0005280Depressed nasal bridge0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0005280HP:0005280Depressed nasal bridge0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 6.3
HP:0005280HP:0005280Depressed nasal bridge0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare36
HP:0005280HP:0005280Depressed nasal bridge0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0005280HP:0005280Depressed nasal bridge0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040282 - Frequent101
HP:0005280HP:0005280Depressed nasal bridge0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0005280HP:0005280Depressed nasal bridge0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0005280HP:0005280Depressed nasal bridge0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0005280HP:0005280Depressed nasal bridge0GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM.101
HP:0005280HP:0005280Depressed nasal bridge0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0005280HP:0005280Depressed nasal bridge0GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 2.58
HP:0005280HP:0005280Depressed nasal bridge0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0005280HP:0005280Depressed nasal bridge0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040282 - Frequent240
HP:0005280HP:0005280Depressed nasal bridge0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional15
HP:0005280HP:0005280Depressed nasal bridge0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional92
HP:0005280HP:0005280Depressed nasal bridge0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0005280HP:0005280Depressed nasal bridge0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 1.73
HP:0005280HP:0005280Depressed nasal bridge0GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040281 - Very frequent
HP:0005280HP:0005280Depressed nasal bridge0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1.
HP:0005280HP:0005280Depressed nasal bridge0GPC6 CL E G H100824454ORPHA:93329Autosomal recessive omodysplasiaHP:0040281 - Very frequent99
HP:0005280HP:0005280Depressed nasal bridge0GPC6 CL E G H100824454OMIM:258315Omodysplasia 1.99
HP:0005280HP:0005280Depressed nasal bridge0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0005280HP:0005280Depressed nasal bridge0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare108
HP:0005280HP:0005280Depressed nasal bridge0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040282 - Frequent80
HP:0005280HP:0005280Depressed nasal bridge0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare5
HP:0005280HP:0005280Depressed nasal bridge0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0005280HP:0005280Depressed nasal bridge0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0005280HP:0005280Depressed nasal bridge0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0005280HP:0005280Depressed nasal bridge0H4C9 CL E G H82944793OMIM:619951
HP:0005280HP:0005280Depressed nasal bridge0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040283 - Occasional580
HP:0005280HP:0005280Depressed nasal bridge0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040284 - Very rare580
HP:0005280HP:0005280Depressed nasal bridge0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0005280HP:0005280Depressed nasal bridge0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0005280HP:0005280Depressed nasal bridge0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0005280HP:0005280Depressed nasal bridge0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0005280HP:0005280Depressed nasal bridge0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0005280HP:0005280Depressed nasal bridge0HELLS CL E G H30704861ORPHA:2268ICF syndromeHP:0040282 - Frequent6
HP:0005280HP:0005280Depressed nasal bridge0HELLS CL E G H30704861OMIM:616911Immunodeficiency-centromeric instability-facial anomalies syndrome 46
HP:0005280HP:0005280Depressed nasal bridge0HES7 CL E G H8466715977ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional10
HP:0005280HP:0005280Depressed nasal bridge0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0005280HP:0005280Depressed nasal bridge0HNRNPR CL E G H102365047OMIM:620073
HP:0005280HP:0005280Depressed nasal bridge0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3.2
HP:0005280HP:0005280Depressed nasal bridge0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0005280HP:0005280Depressed nasal bridge0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0005280HP:0005280Depressed nasal bridge0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional8
HP:0005280HP:0005280Depressed nasal bridge0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0005280HP:0005280Depressed nasal bridge0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0005280HP:0005280Depressed nasal bridge0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0005280HP:0005280Depressed nasal bridge0HYAL1 CL E G H33735320OMIM:601492Mucopolysaccharidosis type IX28
HP:0005280HP:0005280Depressed nasal bridge0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0005280HP:0005280Depressed nasal bridge0IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0005280HP:0005280Depressed nasal bridge0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0005280HP:0005280Depressed nasal bridge0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome.115
HP:0005280HP:0005280Depressed nasal bridge0IDUA CL E G H34255391OMIM:607016Scheie syndrome.115
HP:0005280HP:0005280Depressed nasal bridge0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0005280HP:0005280Depressed nasal bridge0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0005280HP:0005280Depressed nasal bridge0IFT74 CL E G H8017321424OMIM:619582JOUBERT SYNDROME 40; JBTS403
HP:0005280HP:0005280Depressed nasal bridge0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent65
HP:0005280HP:0005280Depressed nasal bridge0IFT81 CL E G H2898114313OMIM:617895Short-Rib thoracic dysplasia 19 with or without polydactyly.2
HP:0005280HP:0005280Depressed nasal bridge0IL11RA CL E G H35905967OMIM:614188Craniosynostosis and dental anomalies8
HP:0005280HP:0005280Depressed nasal bridge0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0005280HP:0005280Depressed nasal bridge0INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040281 - Very frequent18
HP:0005280HP:0005280Depressed nasal bridge0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0005280HP:0005280Depressed nasal bridge0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly.
HP:0005280HP:0005280Depressed nasal bridge0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0005280HP:0005280Depressed nasal bridge0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0005280HP:0005280Depressed nasal bridge0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional130
HP:0005280HP:0005280Depressed nasal bridge0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0005280HP:0005280Depressed nasal bridge0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0005280HP:0005280Depressed nasal bridge0KAT6B CL E G H2352217582OMIM:603736Ohdo syndrome, sbbys variant.141
HP:0005280HP:0005280Depressed nasal bridge0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0005280HP:0005280Depressed nasal bridge0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare145
HP:0005280HP:0005280Depressed nasal bridge0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0005280HP:0005280Depressed nasal bridge0KCNE5 CL E G H236306241ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040281 - Very frequent5
HP:0005280HP:0005280Depressed nasal bridge0KCNH1 CL E G H37566250OMIM:611816Temple-Baraitser syndrome.13
HP:0005280HP:0005280Depressed nasal bridge0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0005280HP:0005280Depressed nasal bridge0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome.11
HP:0005280HP:0005280Depressed nasal bridge0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0005280HP:0005280Depressed nasal bridge0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0005280HP:0005280Depressed nasal bridge0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0005280HP:0005280Depressed nasal bridge0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0005280HP:0005280Depressed nasal bridge0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0005280HP:0005280Depressed nasal bridge0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome167
HP:0005280HP:0005280Depressed nasal bridge0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional3
HP:0005280HP:0005280Depressed nasal bridge0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional14
HP:0005280HP:0005280Depressed nasal bridge0KLHL7 CL E G H5597515646OMIM:617055Crisponi/cold-Induced sweating syndrome 3.42
HP:0005280HP:0005280Depressed nasal bridge0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0005280HP:0005280Depressed nasal bridge0KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome.1
HP:0005280HP:0005280Depressed nasal bridge0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0005280HP:0005280Depressed nasal bridge0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndromeHP:0040283 - Occasional196
HP:0005280HP:0005280Depressed nasal bridge0KREMEN1 CL E G H8399917550OMIM:617392Ectodermal dysplasia 13, Hair/tooth typeHP:0040283 - Occasional1
HP:0005280HP:0005280Depressed nasal bridge0KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 2.5
HP:0005280HP:0005280Depressed nasal bridge0LAMA5 CL E G H39116485OMIM:6200765
HP:0005280HP:0005280Depressed nasal bridge0LARP7 CL E G H5157424912OMIM:615071Alazami syndrome.16
HP:0005280HP:0005280Depressed nasal bridge0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0005280HP:0005280Depressed nasal bridge0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0005280HP:0005280Depressed nasal bridge0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0005280HP:0005280Depressed nasal bridge0LFNG CL E G H39556560ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional13
HP:0005280HP:0005280Depressed nasal bridge0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0005280HP:0005280Depressed nasal bridge0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0005280HP:0005280Depressed nasal bridge0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0005280HP:0005280Depressed nasal bridge0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 27.25
HP:0005280HP:0005280Depressed nasal bridge0LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040281 - Very frequent8
HP:0005280HP:0005280Depressed nasal bridge0LONP1 CL E G H93619479OMIM:600373CODAS syndrome.8
HP:0005280HP:0005280Depressed nasal bridge0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0005280HP:0005280Depressed nasal bridge0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040281 - Very frequent289
HP:0005280HP:0005280Depressed nasal bridge0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3.12
HP:0005280HP:0005280Depressed nasal bridge0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0005280HP:0005280Depressed nasal bridge0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0005280HP:0005280Depressed nasal bridge0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0005280HP:0005280Depressed nasal bridge0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0005280HP:0005280Depressed nasal bridge0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0005280HP:0005280Depressed nasal bridge0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0005280HP:0005280Depressed nasal bridge0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0005280HP:0005280Depressed nasal bridge0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2.11
HP:0005280HP:0005280Depressed nasal bridge0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0005280HP:0005280Depressed nasal bridge0MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 25.25
HP:0005280HP:0005280Depressed nasal bridge0MDH1 CL E G H41906970OMIM:618959DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0005280HP:0005280Depressed nasal bridge0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type.950
HP:0005280HP:0005280Depressed nasal bridge0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0005280HP:0005280Depressed nasal bridge0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0005280HP:0005280Depressed nasal bridge0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0005280HP:0005280Depressed nasal bridge0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects.74
HP:0005280HP:0005280Depressed nasal bridge0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0005280HP:0005280Depressed nasal bridge0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20.132
HP:0005280HP:0005280Depressed nasal bridge0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0005280HP:0005280Depressed nasal bridge0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0005280HP:0005280Depressed nasal bridge0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0005280HP:0005280Depressed nasal bridge0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0005280HP:0005280Depressed nasal bridge0MESP2 CL E G H14587329659ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0005280HP:0005280Depressed nasal bridge0METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 44HP:0040283 - Occasional13
HP:0005280HP:0005280Depressed nasal bridge0MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0005280HP:0005280Depressed nasal bridge0MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040281 - Very frequent33
HP:0005280HP:0005280Depressed nasal bridge0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional3
HP:0005280HP:0005280Depressed nasal bridge0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0005280HP:0005280Depressed nasal bridge0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0005280HP:0005280Depressed nasal bridge0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0005280HP:0005280Depressed nasal bridge0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38.
HP:0005280HP:0005280Depressed nasal bridge0MTHFR CL E G H45247436ORPHA:563612Isolated exencephalyHP:0040283 - Occasional183
HP:0005280HP:0005280Depressed nasal bridge0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040284 - Very rare68
HP:0005280HP:0005280Depressed nasal bridge0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0005280HP:0005280Depressed nasal bridge0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0005280HP:0005280Depressed nasal bridge0MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent72
HP:0005280HP:0005280Depressed nasal bridge0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0005280HP:0005280Depressed nasal bridge0MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0005280HP:0005280Depressed nasal bridge0NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2HP:0040282 - Frequent47
HP:0005280HP:0005280Depressed nasal bridge0NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0005280HP:0005280Depressed nasal bridge0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040281 - Very frequent706
HP:0005280HP:0005280Depressed nasal bridge0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0005280HP:0005280Depressed nasal bridge0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare
HP:0005280HP:0005280Depressed nasal bridge0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0005280HP:0005280Depressed nasal bridge0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040284 - Very rare1952
HP:0005280HP:0005280Depressed nasal bridge0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome.1952
HP:0005280HP:0005280Depressed nasal bridge0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040283 - Occasional40
HP:0005280HP:0005280Depressed nasal bridge0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0005280HP:0005280Depressed nasal bridge0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0005280HP:0005280Depressed nasal bridge0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0005280HP:0005280Depressed nasal bridge0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0005280HP:0005280Depressed nasal bridge0NPR2 CL E G H48827944ORPHA:40Acromesomelic dysplasia, Maroteaux typeHP:0040282 - Frequent53
HP:0005280HP:0005280Depressed nasal bridge0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6.102
HP:0005280HP:0005280Depressed nasal bridge0NRCAM CL E G H48977994OMIM:6198332
HP:0005280HP:0005280Depressed nasal bridge0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0005280HP:0005280Depressed nasal bridge0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0005280HP:0005280Depressed nasal bridge0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0005280HP:0005280Depressed nasal bridge0NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0005280HP:0005280Depressed nasal bridge0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional6
HP:0005280HP:0005280Depressed nasal bridge0NSRP1 CL E G H8408125305OMIM:620001
HP:0005280HP:0005280Depressed nasal bridge0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0005280HP:0005280Depressed nasal bridge0NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0005280HP:0005280Depressed nasal bridge0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0005280HP:0005280Depressed nasal bridge0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0005280HP:0005280Depressed nasal bridge0PAICS CL E G H106068587OMIM:619859
HP:0005280HP:0005280Depressed nasal bridge0PAK2 CL E G H50628591ORPHA:1571Knobloch syndromeHP:0040283 - Occasional
HP:0005280HP:0005280Depressed nasal bridge0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0005280HP:0005280Depressed nasal bridge0PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent3
HP:0005280HP:0005280Depressed nasal bridge0PAX3 CL E G H50778617ORPHA:1529Craniofacial-deafness-hand syndromeHP:0040281 - Very frequent59
HP:0005280HP:0005280Depressed nasal bridge0PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0005280HP:0005280Depressed nasal bridge0PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040281 - Very frequent113
HP:0005280HP:0005280Depressed nasal bridge0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0005280HP:0005280Depressed nasal bridge0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0005280HP:0005280Depressed nasal bridge0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040281 - Very frequent113
HP:0005280HP:0005280Depressed nasal bridge0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040281 - Very frequent66
HP:0005280HP:0005280Depressed nasal bridge0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0005280HP:0005280Depressed nasal bridge0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040281 - Very frequent169
HP:0005280HP:0005280Depressed nasal bridge0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040281 - Very frequent75
HP:0005280HP:0005280Depressed nasal bridge0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040281 - Very frequent4
HP:0005280HP:0005280Depressed nasal bridge0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040281 - Very frequent65
HP:0005280HP:0005280Depressed nasal bridge0PEX13 CL E G H51948855OMIM:614883Peroxisome biogenesis disorder 11A (Zellweger).66
HP:0005280HP:0005280Depressed nasal bridge0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040281 - Very frequent66
HP:0005280HP:0005280Depressed nasal bridge0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040281 - Very frequent46
HP:0005280HP:0005280Depressed nasal bridge0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040281 - Very frequent59
HP:0005280HP:0005280Depressed nasal bridge0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040281 - Very frequent62
HP:0005280HP:0005280Depressed nasal bridge0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040281 - Very frequent82
HP:0005280HP:0005280Depressed nasal bridge0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040281 - Very frequent106
HP:0005280HP:0005280Depressed nasal bridge0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040281 - Very frequent47
HP:0005280HP:0005280Depressed nasal bridge0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040281 - Very frequent99
HP:0005280HP:0005280Depressed nasal bridge0PEX6 CL E G H51908859OMIM:614862Peroxisome biogenesis disorder 4A (Zellweger).98
HP:0005280HP:0005280Depressed nasal bridge0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040281 - Very frequent98
HP:0005280HP:0005280Depressed nasal bridge0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72
HP:0005280HP:0005280Depressed nasal bridge0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0005280HP:0005280Depressed nasal bridge0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0005280HP:0005280Depressed nasal bridge0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040283 - Occasional7
HP:0005280HP:0005280Depressed nasal bridge0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0005280HP:0005280Depressed nasal bridge0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0005280HP:0005280Depressed nasal bridge0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare2
HP:0005280HP:0005280Depressed nasal bridge0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0005280HP:0005280Depressed nasal bridge0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040281 - Very frequent12
HP:0005280HP:0005280Depressed nasal bridge0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0005280HP:0005280Depressed nasal bridge0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0005280HP:0005280Depressed nasal bridge0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0005280HP:0005280Depressed nasal bridge0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040283 - Occasional
HP:0005280HP:0005280Depressed nasal bridge0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040283 - Occasional162
HP:0005280HP:0005280Depressed nasal bridge0PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome.162
HP:0005280HP:0005280Depressed nasal bridge0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0005280HP:0005280Depressed nasal bridge0PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome.9
HP:0005280HP:0005280Depressed nasal bridge0PIK3R2 CL E G H52968980ORPHA:83473Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeHP:0040282 - Frequent12
HP:0005280HP:0005280Depressed nasal bridge0PITX1 CL E G H53079004OMIM:119800CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF8
HP:0005280HP:0005280Depressed nasal bridge0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040283 - Occasional51
HP:0005280HP:0005280Depressed nasal bridge0PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0005280HP:0005280Depressed nasal bridge0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0005280HP:0005280Depressed nasal bridge0PLXNA1 CL E G H53619099OMIM:619955
HP:0005280HP:0005280Depressed nasal bridge0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0005280HP:0005280Depressed nasal bridge0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare244
HP:0005280HP:0005280Depressed nasal bridge0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0005280HP:0005280Depressed nasal bridge0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0005280HP:0005280Depressed nasal bridge0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0005280HP:0005280Depressed nasal bridge0POLE CL E G H54269177ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent1129
HP:0005280HP:0005280Depressed nasal bridge0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0005280HP:0005280Depressed nasal bridge0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0005280HP:0005280Depressed nasal bridge0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0005280HP:0005280Depressed nasal bridge0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0005280HP:0005280Depressed nasal bridge0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0005280HP:0005280Depressed nasal bridge0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0005280HP:0005280Depressed nasal bridge0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 1.36
HP:0005280HP:0005280Depressed nasal bridge0PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent
HP:0005280HP:0005280Depressed nasal bridge0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0005280HP:0005280Depressed nasal bridge0PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent7
HP:0005280HP:0005280Depressed nasal bridge0PRIM1 CL E G H55579369OMIM:620005
HP:0005280HP:0005280Depressed nasal bridge0PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040281 - Very frequent134
HP:0005280HP:0005280Depressed nasal bridge0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0005280HP:0005280Depressed nasal bridge0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0005280HP:0005280Depressed nasal bridge0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0005280HP:0005280Depressed nasal bridge0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia.7
HP:0005280HP:0005280Depressed nasal bridge0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0005280HP:0005280Depressed nasal bridge0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional9
HP:0005280HP:0005280Depressed nasal bridge0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional34
HP:0005280HP:0005280Depressed nasal bridge0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0005280HP:0005280Depressed nasal bridge0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0005280HP:0005280Depressed nasal bridge0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0005280HP:0005280Depressed nasal bridge0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional948
HP:0005280HP:0005280Depressed nasal bridge0PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndrome.948
HP:0005280HP:0005280Depressed nasal bridge0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0005280HP:0005280Depressed nasal bridge0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0005280HP:0005280Depressed nasal bridge0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040282 - Frequent53
HP:0005280HP:0005280Depressed nasal bridge0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0005280HP:0005280Depressed nasal bridge0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent90
HP:0005280HP:0005280Depressed nasal bridge0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent135
HP:0005280HP:0005280Depressed nasal bridge0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0005280HP:0005280Depressed nasal bridge0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0005280HP:0005280Depressed nasal bridge0RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0005280HP:0005280Depressed nasal bridge0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0005280HP:0005280Depressed nasal bridge0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0005280HP:0005280Depressed nasal bridge0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0005280HP:0005280Depressed nasal bridge0RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent73
HP:0005280HP:0005280Depressed nasal bridge0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0005280HP:0005280Depressed nasal bridge0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0005280HP:0005280Depressed nasal bridge0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0005280HP:0005280Depressed nasal bridge0RIPK4 CL E G H54101496ORPHA:1401CHAND syndromeHP:0040282 - Frequent69
HP:0005280HP:0005280Depressed nasal bridge0RIPPLY2 CL E G H13470121390ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional3
HP:0005280HP:0005280Depressed nasal bridge0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040282 - Frequent37
HP:0005280HP:0005280Depressed nasal bridge0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0005280HP:0005280Depressed nasal bridge0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0005280HP:0005280Depressed nasal bridge0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0005280HP:0005280Depressed nasal bridge0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0005280HP:0005280Depressed nasal bridge0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0005280HP:0005280Depressed nasal bridge0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0005280HP:0005280Depressed nasal bridge0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0005280HP:0005280Depressed nasal bridge0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0005280HP:0005280Depressed nasal bridge0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0005280HP:0005280Depressed nasal bridge0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0005280HP:0005280Depressed nasal bridge0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0005280HP:0005280Depressed nasal bridge0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0005280HP:0005280Depressed nasal bridge0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0005280HP:0005280Depressed nasal bridge0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0005280HP:0005280Depressed nasal bridge0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0005280HP:0005280Depressed nasal bridge0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0005280HP:0005280Depressed nasal bridge0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0005280HP:0005280Depressed nasal bridge0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0005280HP:0005280Depressed nasal bridge0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0005280HP:0005280Depressed nasal bridge0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0005280HP:0005280Depressed nasal bridge0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0005280HP:0005280Depressed nasal bridge0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0005280HP:0005280Depressed nasal bridge0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0005280HP:0005280Depressed nasal bridge0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040281 - Very frequent65
HP:0005280HP:0005280Depressed nasal bridge0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0005280HP:0005280Depressed nasal bridge0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0005280HP:0005280Depressed nasal bridge0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0005280HP:0005280Depressed nasal bridge0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0005280HP:0005280Depressed nasal bridge0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0005280HP:0005280Depressed nasal bridge0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040282 - Frequent90
HP:0005280HP:0005280Depressed nasal bridge0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0005280HP:0005280Depressed nasal bridge0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0005280HP:0005280Depressed nasal bridge0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare126
HP:0005280HP:0005280Depressed nasal bridge0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare427
HP:0005280HP:0005280Depressed nasal bridge0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0005280HP:0005280Depressed nasal bridge0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0005280HP:0005280Depressed nasal bridge0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0005280HP:0005280Depressed nasal bridge0SEPTIN9 CL E G H108017323OMIM:162100Amyotrophy, hereditary neuralgic.
HP:0005280HP:0005280Depressed nasal bridge0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0005280HP:0005280Depressed nasal bridge0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0005280HP:0005280Depressed nasal bridge0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0005280HP:0005280Depressed nasal bridge0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040281 - Very frequent134
HP:0005280HP:0005280Depressed nasal bridge0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0005280HP:0005280Depressed nasal bridge0SHH CL E G H646910848OMIM:142945Holoprosencephaly 3.67
HP:0005280HP:0005280Depressed nasal bridge0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0005280HP:0005280Depressed nasal bridge0SHROOM4 CL E G H5747729215ORPHA:85288X-linked intellectual disability, Stocco Dos Santos typeHP:0040282 - Frequent42
HP:0005280HP:0005280Depressed nasal bridge0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare11
HP:0005280HP:0005280Depressed nasal bridge0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040283 - Occasional40
HP:0005280HP:0005280Depressed nasal bridge0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0005280HP:0005280Depressed nasal bridge0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0005280HP:0005280Depressed nasal bridge0SIX2 CL E G H1073610888ORPHA:488437SIX2-related frontonasal dysplasiaHP:0040281 - Very frequent2
HP:0005280HP:0005280Depressed nasal bridge0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0005280HP:0005280Depressed nasal bridge0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2
HP:0005280HP:0005280Depressed nasal bridge0SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent2
HP:0005280HP:0005280Depressed nasal bridge0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0005280HP:0005280Depressed nasal bridge0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0005280HP:0005280Depressed nasal bridge0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0005280HP:0005280Depressed nasal bridge0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II.166
HP:0005280HP:0005280Depressed nasal bridge0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040281 - Very frequent166
HP:0005280HP:0005280Depressed nasal bridge0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0005280HP:0005280Depressed nasal bridge0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0005280HP:0005280Depressed nasal bridge0SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent55
HP:0005280HP:0005280Depressed nasal bridge0SLC45A1 CL E G H5065117939OMIM:617532Intellectual developmental disorder with neuropsychiatric features.2
HP:0005280HP:0005280Depressed nasal bridge0SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional59
HP:0005280HP:0005280Depressed nasal bridge0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0005280HP:0005280Depressed nasal bridge0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0005280HP:0005280Depressed nasal bridge0SMARCA4 CL E G H659711100OMIM:614609Coffin-Siris syndrome 4.617
HP:0005280HP:0005280Depressed nasal bridge0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0005280HP:0005280Depressed nasal bridge0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040283 - Occasional74
HP:0005280HP:0005280Depressed nasal bridge0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0005280HP:0005280Depressed nasal bridge0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 3.87
HP:0005280HP:0005280Depressed nasal bridge0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0005280HP:0005280Depressed nasal bridge0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0005280HP:0005280Depressed nasal bridge0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0005280HP:0005280Depressed nasal bridge0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0005280HP:0005280Depressed nasal bridge0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0005280HP:0005280Depressed nasal bridge0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0005280HP:0005280Depressed nasal bridge0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0005280HP:0005280Depressed nasal bridge0SMG9 CL E G H5600625763OMIM:6199952
HP:0005280HP:0005280Depressed nasal bridge0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0005280HP:0005280Depressed nasal bridge0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0005280HP:0005280Depressed nasal bridge0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0005280HP:0005280Depressed nasal bridge0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0005280HP:0005280Depressed nasal bridge0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0005280HP:0005280Depressed nasal bridge0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0005280HP:0005280Depressed nasal bridge0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040283 - Occasional14
HP:0005280HP:0005280Depressed nasal bridge0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0005280HP:0005280Depressed nasal bridge0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0005280HP:0005280Depressed nasal bridge0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0005280HP:0005280Depressed nasal bridge0SOST CL E G H5096413771ORPHA:1513Craniodiaphyseal dysplasiaHP:0040281 - Very frequent26
HP:0005280HP:0005280Depressed nasal bridge0SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0005280HP:0005280Depressed nasal bridge0SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0005280HP:0005280Depressed nasal bridge0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0005280HP:0005280Depressed nasal bridge0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0005280HP:0005280Depressed nasal bridge0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome.11
HP:0005280HP:0005280Depressed nasal bridge0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0005280HP:0005280Depressed nasal bridge0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040283 - Occasional109
HP:0005280HP:0005280Depressed nasal bridge0SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII.34
HP:0005280HP:0005280Depressed nasal bridge0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040283 - Occasional19
HP:0005280HP:0005280Depressed nasal bridge0SPATA5L1 CL E G H7902928762OMIM:619616NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0005280HP:0005280Depressed nasal bridge0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type.6
HP:0005280HP:0005280Depressed nasal bridge0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0005280HP:0005280Depressed nasal bridge0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0005280HP:0005280Depressed nasal bridge0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0005280HP:0005280Depressed nasal bridge0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0005280HP:0005280Depressed nasal bridge0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional5
HP:0005280HP:0005280Depressed nasal bridge0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ.80
HP:0005280HP:0005280Depressed nasal bridge0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0005280HP:0005280Depressed nasal bridge0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040282 - Frequent86
HP:0005280HP:0005280Depressed nasal bridge0SUFU CL E G H5168416466OMIM:617757Joubert syndrome 32.124
HP:0005280HP:0005280Depressed nasal bridge0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040282 - Frequent80
HP:0005280HP:0005280Depressed nasal bridge0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0005280HP:0005280Depressed nasal bridge0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional6
HP:0005280HP:0005280Depressed nasal bridge0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional34
HP:0005280HP:0005280Depressed nasal bridge0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040283 - Occasional21
HP:0005280HP:0005280Depressed nasal bridge0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0005280HP:0005280Depressed nasal bridge0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0005280HP:0005280Depressed nasal bridge0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0005280HP:0005280Depressed nasal bridge0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040281 - Very frequent52
HP:0005280HP:0005280Depressed nasal bridge0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION.
HP:0005280HP:0005280Depressed nasal bridge0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0005280HP:0005280Depressed nasal bridge0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0005280HP:0005280Depressed nasal bridge0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0005280HP:0005280Depressed nasal bridge0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0005280HP:0005280Depressed nasal bridge0TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040281 - Very frequent104
HP:0005280HP:0005280Depressed nasal bridge0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0005280HP:0005280Depressed nasal bridge0TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional155
HP:0005280HP:0005280Depressed nasal bridge0TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 4.32
HP:0005280HP:0005280Depressed nasal bridge0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0005280HP:0005280Depressed nasal bridge0TMEM147 CL E G H1043030414OMIM:620075
HP:0005280HP:0005280Depressed nasal bridge0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0005280HP:0005280Depressed nasal bridge0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0005280HP:0005280Depressed nasal bridge0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional6
HP:0005280HP:0005280Depressed nasal bridge0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040281 - Very frequent
HP:0005280HP:0005280Depressed nasal bridge0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0005280HP:0005280Depressed nasal bridge0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0005280HP:0005280Depressed nasal bridge0TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesisHP:0040283 - Occasional92
HP:0005280HP:0005280Depressed nasal bridge0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0005280HP:0005280Depressed nasal bridge0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare1
HP:0005280HP:0005280Depressed nasal bridge0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0005280HP:0005280Depressed nasal bridge0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA.133
HP:0005280HP:0005280Depressed nasal bridge0TRIP11 CL E G H932112305ORPHA:166272OdontochondrodysplasiaHP:0040283 - Occasional133
HP:0005280HP:0005280Depressed nasal bridge0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 49.2
HP:0005280HP:0005280Depressed nasal bridge0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040281 - Very frequent214
HP:0005280HP:0005280Depressed nasal bridge0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia214
HP:0005280HP:0005280Depressed nasal bridge0TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type214
HP:0005280HP:0005280Depressed nasal bridge0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0005280HP:0005280Depressed nasal bridge0TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 4.9
HP:0005280HP:0005280Depressed nasal bridge0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9
HP:0005280HP:0005280Depressed nasal bridge0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0005280HP:0005280Depressed nasal bridge0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0005280HP:0005280Depressed nasal bridge0TUBA1A CL E G H784620766ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent106
HP:0005280HP:0005280Depressed nasal bridge0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1.14
HP:0005280HP:0005280Depressed nasal bridge0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0005280HP:0005280Depressed nasal bridge0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040283 - Occasional7
HP:0005280HP:0005280Depressed nasal bridge0TWIST2 CL E G H11758120670OMIM:227260FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD37
HP:0005280HP:0005280Depressed nasal bridge0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0005280HP:0005280Depressed nasal bridge0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040282 - Frequent7
HP:0005280HP:0005280Depressed nasal bridge0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0005280HP:0005280Depressed nasal bridge0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0005280HP:0005280Depressed nasal bridge0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0005280HP:0005280Depressed nasal bridge0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 7.7
HP:0005280HP:0005280Depressed nasal bridge0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0005280HP:0005280Depressed nasal bridge0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted.27
HP:0005280HP:0005280Depressed nasal bridge0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0005280HP:0005280Depressed nasal bridge0VANGL2 CL E G H5721615511ORPHA:563612Isolated exencephalyHP:0040283 - Occasional2
HP:0005280HP:0005280Depressed nasal bridge0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0005280HP:0005280Depressed nasal bridge0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0005280HP:0005280Depressed nasal bridge0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0005280HP:0005280Depressed nasal bridge0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0005280HP:0005280Depressed nasal bridge0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040282 - Frequent83
HP:0005280HP:0005280Depressed nasal bridge0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 1.83
HP:0005280HP:0005280Depressed nasal bridge0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040283 - Occasional10
HP:0005280HP:0005280Depressed nasal bridge0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8
HP:0005280HP:0005280Depressed nasal bridge0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0005280HP:0005280Depressed nasal bridge0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0005280HP:0005280Depressed nasal bridge0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent136
HP:0005280HP:0005280Depressed nasal bridge0WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations.
HP:0005280HP:0005280Depressed nasal bridge0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0005280HP:0005280Depressed nasal bridge0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0005280HP:0005280Depressed nasal bridge0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0005280HP:0005280Depressed nasal bridge0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent14
HP:0005280HP:0005280Depressed nasal bridge0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0005280HP:0005280Depressed nasal bridge0ZBTB18 CL E G H1047213030ORPHA:36367Distal monosomy 1qHP:0040281 - Very frequent16
HP:0005280HP:0005280Depressed nasal bridge0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 22.16
HP:0005280HP:0005280Depressed nasal bridge0ZBTB24 CL E G H984121143ORPHA:2268ICF syndromeHP:0040282 - Frequent9
HP:0005280HP:0005280Depressed nasal bridge0ZBTB24 CL E G H984121143OMIM:614069Immunodeficiency-Centromeric instability-facial anomalies syndrome2.9
HP:0005280HP:0005280Depressed nasal bridge0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0005280HP:0005280Depressed nasal bridge0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0005280HP:0005280Depressed nasal bridge0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0005280HP:0005280Depressed nasal bridge0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5


Genes (542) :ABCC9 ACAN ACOX1 ACSL4 ADA2 ADAMTS10 ADAMTS2 ADAMTS3 ADAMTSL2 ADAT3 ADGRG6 ADNP AGA AGL AHDC1 AIFM1 AKT1 AKT3 ALDH6A1 ALG3 ALG9 ALX4 AMMECR1 ANK1 ANKH ANTXR1 ARID1A ARID1B ARID2 ARL3 ARSB ARSL ARX ASH1L ASXL1 ASXL3 ATRX AUTS2 B3GALT6 B3GAT3 B3GLCT BBS7 BICRA BLTP1 BMP2 BMPER BMPR1A BRAF BRD4 BUB1B CACNA1C CAMKMT CANT1 CASK CASZ1 CBL CCBE1 CCDC22 CCND2 CD96 CDC42BPB CDCA7 CDH11 CDH2 CDK10 CDKL5 CDKN1C CEP57 CHD7 CHST3 CLIC2 CNOT1 COG8 COL11A1 COL11A2 COL18A1 COL1A1 COL1A2 COL2A1 COL9A3 CREBBP CRIPT CRLF1 CSGALNACT1 CSPP1 CTU2 CUL4B CUL7 DDB1 DDR2 DEAF1 DHCR24 DHCR7 DICER1 DIS3L2 DLK1 DLL3 DMXL2 DNMT3B DOCK6 DOK7 DPF2 DPH1 DPM1 DPYD DUOX2 DUOXA2 DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EBP EDA EDAR EDARADD EED EEF1A2 EFEMP2 EIF2AK3 ELN EP300 EPG5 ERF ETFA ETFB ETFDH EXOSC1 EXTL3 EYA1 EZH2 FAM20C FAR1 FAT4 FBN1 FBXO28 FDFT1 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FH FLII FLNA FLNB FOCAD FOXC1 FOXG1 FOXL2 FRAS1 FREM2 FTSJ1 FZD2 GABRD GAD1 GATA1 GATAD2B GBA1 GJA1 GJA5 GJA8 GLB1 GLI2 GLI3 GLIS3 GLUL GMNN GNAO1 GNAS GNB2 GNPAT GNPTAB GNRH1 GNRHR GNS GPC3 GPC4 GPC6 GPX4 GRIN1 GRIP1 GRM7 GTPBP2 H3-3A H4C11 H4C9 HBB HDAC4 HDAC8 HECW2 HELLS HES7 HESX1 HNRNPR HOXB1 HRAS HS6ST1 HSD17B4 HSPG2 HUWE1 HYAL1 IARS2 IDUA IFT140 IFT52 IFT74 IFT80 IFT81 IL11RA IL6ST INPPL1 INTU IPO8 IQSEC2 IYD JAG1 KAT5 KAT6B KAT8 KCNA1 KCNAB2 KCNE5 KCNH1 KCTD1 KDM6B KIAA0586 KIAA0753 KIF11 KIF7 KISS1 KISS1R KLHL7 KNSTRN KRAS KREMEN1 KYNU LAMA5 LARP7 LBR LFNG LHX3 LHX4 LIG4 LINS1 LONP1 LRP2 LTBP3 LUZP1 MACF1 MADD MAF MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPRE2 MARS2 MDH1 MECP2 MED12 MED12L MED13L MED27 MEF2C MEG3 MEGF8 MESP2 METTL23 MGP MINPP1 MLXIPL MMP23B MN1 MRAS MRPS14 MTHFR MTOR MTX2 MUSK MYMK MYOD1 NAA10 NAGA NBN NEPRO NEUROD2 NEXMIF NF1 NFIX NIPBL NMNAT1 NPR2 NRAS NRCAM NSD1 NSD2 NSDHL NSMCE3 NSMF NSRP1 NSUN2 NUP88 NXN OBSL1 P4HTM PAICS PAK2 PAM16 PAX1 PAX3 PCLO PDE4D PDPN PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PIGA PIGG PIGL PIGN PIGP PIGQ PIGT PIGU PIGY PIK3C2A PIK3CA PIK3CD PIK3R2 PITX1 PITX2 PLCB3 PLOD1 PLXNA1 PMM2 PNKP POGZ POLA1 POLE POLR3A POLRMT POR POU1F1 PPM1B PRDM16 PREPL PRIM1 PRKAR1A PRKAR1B PRKCZ PRKD1 PRMT7 PROK2 PROKR2 PROP1 PRPS1 PSAT1 PTEN PTH1R PURA RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RAI1 RALGAPA1 RAPSN RECQL4 RERE RHOBTB2 RIPK4 RIPPLY2 RMRP RNF2 ROR2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RSPRY1 RTL1 RUNX2 SCARF2 SCN1B SCN2A SCO2 SCYL2 SEMA3E SEPTIN9 SETBP1 SETD5 SH3PXD2B SHH SHOX SHROOM4 SIK1 SIM1 SIN3A SIX2 SKI SKIC2 SLC18A3 SLC1A4 SLC25A22 SLC25A24 SLC26A2 SLC35C1 SLC39A13 SLC3A1 SLC45A1 SLC5A5 SLC6A9 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMO SMOC1 SMPD4 SNAP29 SNX14 SON SOS1 SOST SOX11 SOX4 SOX5 SOX9 SP7 SPATA5 SPATA5L1 SPECC1L SPEN SPOP SPRY4 SRD5A3 STAG2 STX16 SUFU SUMF1 SYNE1 TAC3 TACR3 TAF1 TALDO1 TAOK1 TBCE TBX2 TBX4 TCF20 TCF3 TFAP2A TFAP2B TFE3 TG TGIF1 TMEM107 TMEM147 TMEM216 TMEM94 TOE1 TONSL TP63 TPO TRIM37 TRIM8 TRIO TRIP11 TRIP12 TRPV4 TRRAP TSHB TSR2 TTC26 TUBA1A TUBB TWIST1 TWIST2 UBE2A UBE3B UBE4B UGP2 UQCC2 USB1 USP9X VANGL2 VARS1 WAC WASHC5 WDR11 WDR26 WDR35 WDR4 WNT5A XYLT1 YARS1 ZBTB18 ZBTB24 ZIC2 ZMPSTE24 ZNF292 ZSWIM6

Diseases (535) :OMIM:239850 OMIM:165800 ORPHA:2971 OMIM:264470 ORPHA:86818 ORPHA:124 OMIM:277600 ORPHA:1901 ORPHA:2136 ORPHA:363528 OMIM:615286 OMIM:616503 ORPHA:404448 OMIM:208400 OMIM:232400 ORPHA:412069 OMIM:615829 ORPHA:83629 OMIM:300232 ORPHA:744 OMIM:176920 ORPHA:83473 OMIM:614105 OMIM:601110 ORPHA:79328 OMIM:608776 OMIM:613451 ORPHA:228390 OMIM:609597 OMIM:300990 ORPHA:251066 ORPHA:1522 ORPHA:2067 OMIM:230740 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:617808 OMIM:618161 OMIM:253200 OMIM:302950 ORPHA:1934 OMIM:617796 ORPHA:97297 OMIM:605039 OMIM:615485 OMIM:301040 OMIM:309580 OMIM:615834 ORPHA:536467 OMIM:245600 ORPHA:709 OMIM:615984 OMIM:619325 OMIM:617822 ORPHA:261295 OMIM:608022 ORPHA:79076 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:613706 ORPHA:199 OMIM:257300 OMIM:620029 OMIM:601005 ORPHA:163693 OMIM:251450 ORPHA:1425 ORPHA:1606 OMIM:613563 OMIM:235510 ORPHA:7 ORPHA:1308 OMIM:619841 ORPHA:2268 OMIM:616910 ORPHA:1299 OMIM:619736 OMIM:618929 OMIM:617694 ORPHA:85173 OMIM:614732 OMIM:614114 ORPHA:138 ORPHA:432 ORPHA:324410 OMIM:618500 OMIM:611182 ORPHA:2021 OMIM:228520 OMIM:154780 ORPHA:560 OMIM:604841 ORPHA:1427 OMIM:215150 OMIM:184840 ORPHA:1571 OMIM:267750 ORPHA:1899 ORPHA:485 OMIM:156550 ORPHA:85166 OMIM:151210 OMIM:108300 OMIM:620022 OMIM:618332 OMIM:615789 OMIM:272430 OMIM:618870 ORPHA:397715 OMIM:618142 OMIM:300354 OMIM:273750 OMIM:619426 OMIM:271665 ORPHA:819 ORPHA:35107 OMIM:270400 OMIM:618272 OMIM:267000 ORPHA:254528 ORPHA:96334 ORPHA:96184 ORPHA:2311 OMIM:242860 OMIM:614219 ORPHA:994 OMIM:618027 ORPHA:459061 OMIM:616901 OMIM:608799 ORPHA:79322 ORPHA:1675 ORPHA:95716 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 ORPHA:93271 OMIM:615503 OMIM:617088 ORPHA:35173 OMIM:305100 OMIM:224900 OMIM:614941 OMIM:617561 OMIM:616393 OMIM:614437 OMIM:226980 OMIM:194050 OMIM:618333 OMIM:242840 OMIM:617180 OMIM:600775 OMIM:231680 OMIM:619304 OMIM:617425 ORPHA:508533 ORPHA:2792 OMIM:277590 OMIM:259775 ORPHA:438178 OMIM:616006 OMIM:608328 OMIM:619777 OMIM:618156 ORPHA:2117 OMIM:166250 OMIM:101600 ORPHA:93258 OMIM:207410 OMIM:101200 ORPHA:87 OMIM:123790 ORPHA:1555 ORPHA:93259 ORPHA:93260 ORPHA:794 OMIM:100800 ORPHA:15 OMIM:616482 ORPHA:1860 ORPHA:93274 OMIM:606812 ORPHA:90650 ORPHA:90652 OMIM:304120 OMIM:108720 OMIM:108721 OMIM:150250 ORPHA:503 OMIM:619991 ORPHA:782 ORPHA:261144 OMIM:613454 OMIM:110100 OMIM:219000 ORPHA:2052 OMIM:309549 ORPHA:93328 OMIM:164745 OMIM:619124 ORPHA:363686 ORPHA:85212 OMIM:608013 OMIM:612474 ORPHA:79255 OMIM:610829 OMIM:146510 OMIM:610199 OMIM:610015 OMIM:616835 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:612462 OMIM:612463 OMIM:619503 OMIM:222765 OMIM:252500 ORPHA:576 OMIM:252940 OMIM:312870 ORPHA:2662 ORPHA:93329 OMIM:258315 OMIM:250220 OMIM:617988 OMIM:619720 OMIM:619759 OMIM:619951 ORPHA:231214 ORPHA:231226 ORPHA:1001 OMIM:600430 OMIM:300882 OMIM:617268 OMIM:616911 ORPHA:226307 OMIM:620073 OMIM:614744 ORPHA:3071 OMIM:218040 OMIM:261515 OMIM:309590 OMIM:601492 OMIM:616007 OMIM:607014 ORPHA:93473 OMIM:607015 OMIM:607016 OMIM:266920 OMIM:617102 OMIM:619582 OMIM:617895 OMIM:614188 OMIM:619750 ORPHA:2746 OMIM:258480 OMIM:617925 OMIM:619472 OMIM:118450 OMIM:619103 OMIM:603736 OMIM:618974 OMIM:611816 ORPHA:420561 OMIM:181270 OMIM:618505 OMIM:616546 OMIM:619479 OMIM:152950 OMIM:607131 OMIM:617055 ORPHA:221139 OMIM:613328 OMIM:600268 OMIM:617392 OMIM:617661 OMIM:620076 OMIM:615071 OMIM:215140 OMIM:169400 OMIM:618019 ORPHA:235 OMIM:614340 ORPHA:1458 OMIM:600373 OMIM:222448 ORPHA:2143 OMIM:617809 OMIM:618325 OMIM:619005 ORPHA:1272 OMIM:601088 ORPHA:309282 OMIM:617137 OMIM:616734 OMIM:616430 OMIM:618959 OMIM:300260 OMIM:300895 OMIM:618872 ORPHA:369891 OMIM:616789 OMIM:619286 OMIM:613443 OMIM:614976 OMIM:615942 OMIM:245150 ORPHA:85202 ORPHA:284339 OMIM:618774 OMIM:618499 OMIM:618378 ORPHA:563612 ORPHA:457485 OMIM:616638 OMIM:619127 OMIM:254940 OMIM:300855 ORPHA:79280 OMIM:609242 ORPHA:647 OMIM:618853 OMIM:300912 ORPHA:97685 OMIM:601321 ORPHA:420179 OMIM:602535 OMIM:122470 OMIM:619260 ORPHA:40 OMIM:613224 OMIM:619833 OMIM:117550 OMIM:619695 OMIM:308050 OMIM:617241 OMIM:620001 ORPHA:1507 OMIM:612921 OMIM:618493 OMIM:619859 OMIM:613320 ORPHA:1529 OMIM:608027 ORPHA:950 OMIM:614613 ORPHA:280651 ORPHA:439822 ORPHA:742 OMIM:170100 ORPHA:912 OMIM:614883 OMIM:614862 OMIM:215100 OMIM:615802 OMIM:300868 ORPHA:488635 OMIM:280000 OMIM:614080 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:616809 ORPHA:557003 ORPHA:60040 OMIM:602501 OMIM:119800 OMIM:618961 OMIM:225400 OMIM:619955 OMIM:212065 ORPHA:468678 OMIM:616364 OMIM:301030 OMIM:264090 OMIM:619743 OMIM:201750 ORPHA:95699 OMIM:613038 OMIM:620005 OMIM:101800 OMIM:619680 OMIM:617364 OMIM:617157 OMIM:300661 ORPHA:284417 OMIM:605309 ORPHA:50945 ORPHA:314655 OMIM:201000 ORPHA:1387 OMIM:212720 OMIM:611554 OMIM:611553 OMIM:618797 OMIM:268400 OMIM:618004 ORPHA:1401 ORPHA:175 OMIM:619460 OMIM:268310 OMIM:617412 ORPHA:192 ORPHA:457395 OMIM:616723 ORPHA:1452 OMIM:119600 OMIM:600920 OMIM:604377 OMIM:618766 OMIM:162100 OMIM:269150 ORPHA:404440 OMIM:615761 ORPHA:137834 OMIM:249420 OMIM:142945 ORPHA:240 ORPHA:85288 ORPHA:171829 ORPHA:94065 OMIM:613406 ORPHA:488437 OMIM:614602 ORPHA:447997 OMIM:612289 OMIM:256050 ORPHA:628 ORPHA:99843 OMIM:612350 OMIM:617532 OMIM:617301 OMIM:614609 OMIM:242900 ORPHA:1830 OMIM:614608 OMIM:618779 OMIM:616938 OMIM:610759 OMIM:619995 OMIM:616920 OMIM:241800 ORPHA:1106 OMIM:206920 OMIM:618622 OMIM:609528 ORPHA:397709 ORPHA:500150 OMIM:617140 OMIM:610733 ORPHA:1513 OMIM:122860 OMIM:269500 OMIM:615866 OMIM:616803 OMIM:114290 ORPHA:140 OMIM:613849 ORPHA:457351 OMIM:619616 OMIM:145420 OMIM:619312 OMIM:618828 OMIM:618829 OMIM:612379 OMIM:301022 OMIM:617757 ORPHA:585 ORPHA:319332 ORPHA:480907 OMIM:606003 OMIM:619575 OMIM:241410 ORPHA:2323 OMIM:618223 ORPHA:261279 OMIM:618430 OMIM:619824 OMIM:113620 ORPHA:46627 OMIM:301066 OMIM:142946 OMIM:617563 OMIM:620075 OMIM:608091 OMIM:618316 ORPHA:93357 OMIM:271510 OMIM:129400 OMIM:253250 OMIM:617061 OMIM:200600 ORPHA:166272 OMIM:617752 ORPHA:2635 OMIM:156530 OMIM:184252 OMIM:618454 OMIM:275100 ORPHA:90674 OMIM:619534 OMIM:156610 ORPHA:920 OMIM:227260 OMIM:300860 ORPHA:163956 OMIM:244450 OMIM:618744 OMIM:615824 OMIM:604173 OMIM:300968 ORPHA:480880 OMIM:617802 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:220210 ORPHA:513456 OMIM:617616 OMIM:613610 OMIM:618346 OMIM:615777 OMIM:619418 ORPHA:36367 OMIM:612337 OMIM:614069 OMIM:609637 OMIM:275210 OMIM:619188 OMIM:617865
 

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