Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the outer ear (HP:0000356)help
Parent Node:
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Abnormal location of ears (HP:0000357)help
..Starting node
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Low-set ears (HP:0000369)help
Term ID: 369
Name: Low-set ears
Synonym: Low set ears; Low-set ears; Lowset ears; Melotia
Definition: Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Comments:
Reference: HP:0000369
Genes and Diseases:
 
       Child Nodes:
........expandLow-set, posteriorly rotated ears (HP:0000368) help

 Sister Nodes: 
..expandAnteverted ears (HP:0040080) help
..expandAsymmetry of the ears (HP:0010722) help
..expandPosteriorly rotated ears (HP:0000358) help
..expandSuperiorly displaced ears (HP:0008541) help
..expandSynotia (HP:0100663) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000369HP:0000369Low-set ears0ACOX1 CL E G H512971ORPHA126257119609751
HP:0000369HP:0000369Low-set ears0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0000369HP:0000369Low-set ears0ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM128103124171640
HP:0000369HP:0000369Low-set ears0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0000369HP:0000369Low-set ears0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0000369HP:0000369Low-set ears0ADGRG6 CL E G H57211616503Lethal congenital contracture syndrome 9616503C4225303OMIM165213841612243
HP:0000369HP:0000369Low-set ears0ADSL CL E G H1584646,XX testicular disorder of sex developmentC2936420ORPHA158279291608222
HP:0000369HP:0000369Low-set ears0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158279291608222
HP:0000369HP:0000369Low-set ears0AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM13418425230615790
HP:0000369HP:0000369Low-set ears0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19642221575608894
HP:0000369HP:0000369Low-set ears0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1332529722138250
HP:0000369HP:0000369Low-set ears0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0000369HP:0000369Low-set ears0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM11446330881300776
HP:0000369HP:0000369Low-set ears0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0000369HP:0000369Low-set ears0ALX4 CL E G H60529228390ORPHA127221450605420
HP:0000369HP:0000369Low-set ears0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0000369HP:0000369Low-set ears0ANTXR1 CL E G H841682067ORPHA1142421014606410
HP:0000369HP:0000369Low-set ears0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0000369HP:0000369Low-set ears0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1490568607246
HP:0000369HP:0000369Low-set ears0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000369HP:0000369Low-set ears0ARVCF CL E G H421567ORPHA12477728602269
HP:0000369HP:0000369Low-set ears0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM19846618060300382
HP:0000369HP:0000369Low-set ears0ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM1630738100790
HP:0000369HP:0000369Low-set ears0ASXL1 CL E G H17102397297ORPHA14119918318612990
HP:0000369HP:0000369Low-set ears0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0000369HP:0000369Low-set ears0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM168123805612991
HP:0000369HP:0000369Low-set ears0ATIC CL E G H471250977ORPHA1857794601731
HP:0000369HP:0000369Low-set ears0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1857794601731
HP:0000369HP:0000369Low-set ears0ATP6V0A2 CL E G H235452834ORPHA15630918481611716
HP:0000369HP:0000369Low-set ears0ATP6V0A2 CL E G H23545357074ORPHA15630918481611716
HP:0000369HP:0000369Low-set ears0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0000369HP:0000369Low-set ears0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15630918481611716
HP:0000369HP:0000369Low-set ears0ATP6V1A CL E G H523357074ORPHA1947851607027
HP:0000369HP:0000369Low-set ears0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0000369HP:0000369Low-set ears0ATP6V1E1 CL E G H529357074ORPHA1278857108746
HP:0000369HP:0000369Low-set ears0ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1278857108746
HP:0000369HP:0000369Low-set ears0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1218718802608918
HP:0000369HP:0000369Low-set ears0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0000369HP:0000369Low-set ears0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000369HP:0000369Low-set ears0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000369HP:0000369Low-set ears0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16224214262607270
HP:0000369HP:0000369Low-set ears0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0000369HP:0000369Low-set ears0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000369HP:0000369Low-set ears0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM19138930604327
HP:0000369HP:0000369Low-set ears0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM1328713221606557
HP:0000369HP:0000369Low-set ears0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0000369HP:0000369Low-set ears0BMP2 CL E G H650617877SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES617877CN807949OMIM137691069112261
HP:0000369HP:0000369Low-set ears0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM11914824154608699
HP:0000369HP:0000369Low-set ears0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000369HP:0000369Low-set ears0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0000369HP:0000369Low-set ears0BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM1684901097164757
HP:0000369HP:0000369Low-set ears0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM11712311551604902
HP:0000369HP:0000369Low-set ears0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000369HP:0000369Low-set ears0C12orf57 CL E G H1132461777ORPHA1812529521615140
HP:0000369HP:0000369Low-set ears0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM1812529521615140
HP:0000369HP:0000369Low-set ears0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM11123218806611501
HP:0000369HP:0000369Low-set ears0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0000369HP:0000369Low-set ears0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0000369HP:0000369Low-set ears0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0000369HP:0000369Low-set ears0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0000369HP:0000369Low-set ears0CCNK CL E G H8812618147INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES618147OMIM1321596603544
HP:0000369HP:0000369Low-set ears0CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0000369HP:0000369Low-set ears0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0000369HP:0000369Low-set ears0CDC45 CL E G H83182554ORPHA1193981739603465
HP:0000369HP:0000369Low-set ears0CDC6 CL E G H9902554ORPHA14581744602627
HP:0000369HP:0000369Low-set ears0CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14581744602627
HP:0000369HP:0000369Low-set ears0CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0000369HP:0000369Low-set ears0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0000369HP:0000369Low-set ears0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0000369HP:0000369Low-set ears0CDKN1C CL E G H102885173ORPHA1814711786600856
HP:0000369HP:0000369Low-set ears0CDKN1C CL E G H1028614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies614732C1846009OMIM1814711786600856
HP:0000369HP:0000369Low-set ears0CDT1 CL E G H816202554ORPHA11215824576605525
HP:0000369HP:0000369Low-set ears0CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM11215824576605525
HP:0000369HP:0000369Low-set ears0CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM11028517272609279
HP:0000369HP:0000369Low-set ears0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11716820311616327
HP:0000369HP:0000369Low-set ears0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0000369HP:0000369Low-set ears0CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM1362361955100690
HP:0000369HP:0000369Low-set ears0CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM1262531965100720
HP:0000369HP:0000369Low-set ears0CHRNG CL E G H11462990ORPHA1351601967100730
HP:0000369HP:0000369Low-set ears0CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM1351601967100730
HP:0000369HP:0000369Low-set ears0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351601967100730
HP:0000369HP:0000369Low-set ears0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0000369HP:0000369Low-set ears0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM121758011602346
HP:0000369HP:0000369Low-set ears0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0000369HP:0000369Low-set ears0COL11A1 CL E G H13012021ORPHA11065602186120280
HP:0000369HP:0000369Low-set ears0COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0000369HP:0000369Low-set ears0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0000369HP:0000369Low-set ears0COL11A2 CL E G H13022021ORPHA1594712187120290
HP:0000369HP:0000369Low-set ears0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13682190120350
HP:0000369HP:0000369Low-set ears0COL2A1 CL E G H128085166ORPHA15707312200120140
HP:0000369HP:0000369Low-set ears0COMT CL E G H1312567ORPHA1155552228116790
HP:0000369HP:0000369Low-set ears0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0000369HP:0000369Low-set ears0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0000369HP:0000369Low-set ears0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000369HP:0000369Low-set ears0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM137562364604237
HP:0000369HP:0000369Low-set ears0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0000369HP:0000369Low-set ears0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1193322529116840
HP:0000369HP:0000369Low-set ears0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM1410328005617057
HP:0000369HP:0000369Low-set ears0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM175310664617170
HP:0000369HP:0000369Low-set ears0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM129529812610534
HP:0000369HP:0000369Low-set ears0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000369HP:0000369Low-set ears0DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM1201252867126064
HP:0000369HP:0000369Low-set ears0DIS3L2 CL E G H1295632849ORPHA11488128648614184
HP:0000369HP:0000369Low-set ears0DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM11488128648614184
HP:0000369HP:0000369Low-set ears0DLX4 CL E G H1748616788Orofacial cleft 15616788C4225209OMIM11222917601911
HP:0000369HP:0000369Low-set ears0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM1572672979602900
HP:0000369HP:0000369Low-set ears0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM12221919189614194
HP:0000369HP:0000369Low-set ears0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000369HP:0000369Low-set ears0DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM16923003603527
HP:0000369HP:0000369Low-set ears0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0000369HP:0000369Low-set ears0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0000369HP:0000369Low-set ears0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0000369HP:0000369Low-set ears0EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM1211173178131242
HP:0000369HP:0000369Low-set ears0EDNRA CL E G H1909616367Mandibulofacial dysostosis with alopecia616367C4225349OMIM110413179131243
HP:0000369HP:0000369Low-set ears0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0000369HP:0000369Low-set ears0EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM1122603192602959
HP:0000369HP:0000369Low-set ears0EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM1171803219604633
HP:0000369HP:0000369Low-set ears0EFTUD2 CL E G H934379113ORPHA110112430858603892
HP:0000369HP:0000369Low-set ears0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM110112430858603892
HP:0000369HP:0000369Low-set ears0EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM123418683608546
HP:0000369HP:0000369Low-set ears0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000369HP:0000369Low-set ears0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0000369HP:0000369Low-set ears0ERCC4 CL E G H2072615272Fanconi anemia, complementation group Q615272C3808988OMIM1723483436133520
HP:0000369HP:0000369Low-set ears0ERCC5 CL E G H2073616570Cerebrooculofacioskeletal syndrome 3616570C1851443OMIM1592633437133530
HP:0000369HP:0000369Low-set ears0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000369HP:0000369Low-set ears0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0000369HP:0000369Low-set ears0EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM12212903519601653
HP:0000369HP:0000369Low-set ears0FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA12813922140611061
HP:0000369HP:0000369Low-set ears0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM12813922140611061
HP:0000369HP:0000369Low-set ears0FANCB CL E G H2187300514Fanconi anemia, complementation group B300514C1845292OMIM1213523583300515
HP:0000369HP:0000369Low-set ears0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0000369HP:0000369Low-set ears0FBN1 CL E G H2200284979ORPHA1272142843603134797
HP:0000369HP:0000369Low-set ears0FBN1 CL E G H22002462ORPHA1272142843603134797
HP:0000369HP:0000369Low-set ears0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0000369HP:0000369Low-set ears0FGF20 CL E G H262811848ORPHA13823677605558
HP:0000369HP:0000369Low-set ears0FGFR1 CL E G H226093258ORPHA12653883688136350
HP:0000369HP:0000369Low-set ears0FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0000369HP:0000369Low-set ears0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0000369HP:0000369Low-set ears0FGFR2 CL E G H226393258ORPHA11593363689176943
HP:0000369HP:0000369Low-set ears0FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0000369HP:0000369Low-set ears0FGFR2 CL E G H2263313855ORPHA11593363689176943
HP:0000369HP:0000369Low-set ears0FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0000369HP:0000369Low-set ears0FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM11593363689176943
HP:0000369HP:0000369Low-set ears0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM11593363689176943
HP:0000369HP:0000369Low-set ears0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM1623703702300163
HP:0000369HP:0000369Low-set ears0FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0000369HP:0000369Low-set ears0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0000369HP:0000369Low-set ears0FLNA CL E G H231690652ORPHA127114723754300017
HP:0000369HP:0000369Low-set ears0FLNA CL E G H2316300048Intestinal pseudoobstruction neuronal chronic idiopathic X-linked300048C2746068OMIM127114723754300017
HP:0000369HP:0000369Low-set ears0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0000369HP:0000369Low-set ears0FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM127114723754300017
HP:0000369HP:0000369Low-set ears0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000369HP:0000369Low-set ears0FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM125325491616305
HP:0000369HP:0000369Low-set ears0GATA4 CL E G H2626251071ORPHA11713414173600576
HP:0000369HP:0000369Low-set ears0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0000369HP:0000369Low-set ears0GDNF CL E G H2668209880Congenital central hypoventilation209880C1275808OMIM1111194232600837
HP:0000369HP:0000369Low-set ears0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0000369HP:0000369Low-set ears0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1371864289300474
HP:0000369HP:0000369Low-set ears0GLE1 CL E G H2733611890Lethal arthrogryposis with anterior horn cell disease611890C2678471OMIM1181644315603371
HP:0000369HP:0000369Low-set ears0GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM11946328510610192
HP:0000369HP:0000369Low-set ears0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM131774341138290
HP:0000369HP:0000369Low-set ears0GMNN CL E G H510532554ORPHA132117493602842
HP:0000369HP:0000369Low-set ears0GNAI3 CL E G H2773602483Auriculocondylar syndrome 1602483C1865295OMIM112244387139370
HP:0000369HP:0000369Low-set ears0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122247523657603824
HP:0000369HP:0000369Low-set ears0GNE CL E G H10020269921Sialuria269921C0342853OMIM122247523657603824
HP:0000369HP:0000369Low-set ears0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0000369HP:0000369Low-set ears0GP1BB CL E G H2812567ORPHA1534044440138720
HP:0000369HP:0000369Low-set ears0GPC6 CL E G H1008293329ORPHA192484454604404
HP:0000369HP:0000369Low-set ears0GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA1216330677301003
HP:0000369HP:0000369Low-set ears0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA1105818062138210
HP:0000369HP:0000369Low-set ears0GREB1L CL E G H800001848ORPHA1398731042617782
HP:0000369HP:0000369Low-set ears0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM15214670607434
HP:0000369HP:0000369Low-set ears0HDAC6 CL E G H10013163966ORPHA1319614064300272
HP:0000369HP:0000369Low-set ears0HDAC6 CL E G H10013300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia300863C3275476OMIM1319614064300272
HP:0000369HP:0000369Low-set ears0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0000369HP:0000369Low-set ears0HIRA CL E G H7290567ORPHA153994916600237
HP:0000369HP:0000369Low-set ears0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0000369HP:0000369Low-set ears0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0000369HP:0000369Low-set ears0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0000369HP:0000369Low-set ears0ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0000369HP:0000369Low-set ears0IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0000369HP:0000369Low-set ears0IGBP1 CL E G H347652055ORPHA121425461300139
HP:0000369HP:0000369Low-set ears0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM121425461300139
HP:0000369HP:0000369Low-set ears0IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM111675466147470
HP:0000369HP:0000369Low-set ears0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15432521474613037
HP:0000369HP:0000369Low-set ears0INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM11964076091147670
HP:0000369HP:0000369Low-set ears0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM164014361606195
HP:0000369HP:0000369Low-set ears0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0000369HP:0000369Low-set ears0ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM129013890606409
HP:0000369HP:0000369Low-set ears0ITGA8 CL E G H85161848ORPHA18566144604063
HP:0000369HP:0000369Low-set ears0ITGA8 CL E G H8516191830Renal adysplasia191830C1619700OMIM18566144604063
HP:0000369HP:0000369Low-set ears0JMJD1C CL E G H221037567ORPHA12950912313604503
HP:0000369HP:0000369Low-set ears0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM12921913013601408
HP:0000369HP:0000369Low-set ears0KAT6B CL E G H2352285201ORPHA17622817582605880
HP:0000369HP:0000369Low-set ears0KAT6B CL E G H235223047ORPHA17622817582605880
HP:0000369HP:0000369Low-set ears0KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM17622817582605880
HP:0000369HP:0000369Low-set ears0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM1943436263600681
HP:0000369HP:0000369Low-set ears0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM1114918249613420
HP:0000369HP:0000369Low-set ears0KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0000369HP:0000369Low-set ears0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0000369HP:0000369Low-set ears0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0000369HP:0000369Low-set ears0KIF7 CL E G H374654166024ORPHA14538630497611254
HP:0000369HP:0000369Low-set ears0KLHL7 CL E G H5597597297ORPHA11412715646611119
HP:0000369HP:0000369Low-set ears0KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM11273797132159555
HP:0000369HP:0000369Low-set ears0KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM1452746407190070
HP:0000369HP:0000369Low-set ears0KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM1452746407190070
HP:0000369HP:0000369Low-set ears0LARP7 CL E G H51574615071Alazami syndrome615071C3554439OMIM1116524912612026
HP:0000369HP:0000369Low-set ears0LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM1281726518600024
HP:0000369HP:0000369Low-set ears0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM1323466597151443
HP:0000369HP:0000369Low-set ears0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM1910423038612625
HP:0000369HP:0000369Low-set ears0LMNA CL E G H40001662ORPHA157411526636150330
HP:0000369HP:0000369Low-set ears0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM157411526636150330
HP:0000369HP:0000369Low-set ears0LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM1466006694600073
HP:0000369HP:0000369Low-set ears0LRRC8A CL E G H56262613506Agammaglobulinemia 5, autosomal dominant613506C3150753OMIM137419027608360
HP:0000369HP:0000369Low-set ears0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM1221726776177075
HP:0000369HP:0000369Low-set ears0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0000369HP:0000369Low-set ears0MARS2 CL E G H92935616430Combined oxidative phosphorylation deficiency 25616430C4225329OMIM167425133609728
HP:0000369HP:0000369Low-set ears0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000369HP:0000369Low-set ears0MBTPS2 CL E G H5136085284ORPHA12620715455300294
HP:0000369HP:0000369Low-set ears0MCM5 CL E G H4174617564MEIER-GORLIN SYNDROME 8617564C4479655OMIM13316948602696
HP:0000369HP:0000369Low-set ears0MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0000369HP:0000369Low-set ears0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0000369HP:0000369Low-set ears0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM13465011957300188
HP:0000369HP:0000369Low-set ears0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0000369HP:0000369Low-set ears0MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM1892456996600662
HP:0000369HP:0000369Low-set ears0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM1192253233604267
HP:0000369HP:0000369Low-set ears0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0000369HP:0000369Low-set ears0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0000369HP:0000369Low-set ears0MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM115114048609204
HP:0000369HP:0000369Low-set ears0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0000369HP:0000369Low-set ears0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0000369HP:0000369Low-set ears0MYCN CL E G H4613164280Feingold syndrome 1164280C0796068OMIM1461037559164840
HP:0000369HP:0000369Low-set ears0MYO18B CL E G H84700616549Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism616549C4225285OMIM1613818150607295
HP:0000369HP:0000369Low-set ears0MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0000369HP:0000369Low-set ears0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0000369HP:0000369Low-set ears0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11029618704300013
HP:0000369HP:0000369Low-set ears0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16524719082611549
HP:0000369HP:0000369Low-set ears0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM132130107720161650
HP:0000369HP:0000369Low-set ears0NFIA CL E G H4774613735Brain malformations and urinary tract defects613735C3151036OMIM117797784600727
HP:0000369HP:0000369Low-set ears0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM11041547788164005
HP:0000369HP:0000369Low-set ears0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0000369HP:0000369Low-set ears0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0000369HP:0000369Low-set ears0NOTCH3 CL E G H48542789ORPHA13795917883600276
HP:0000369HP:0000369Low-set ears0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM13795917883600276
HP:0000369HP:0000369Low-set ears0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM1141817989164790
HP:0000369HP:0000369Low-set ears0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0000369HP:0000369Low-set ears0OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM11625102567300170
HP:0000369HP:0000369Low-set ears0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0000369HP:0000369Low-set ears0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0000369HP:0000369Low-set ears0ORC1 CL E G H49982554ORPHA1121038487601902
HP:0000369HP:0000369Low-set ears0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0000369HP:0000369Low-set ears0ORC4 CL E G H50002554ORPHA16878490603056
HP:0000369HP:0000369Low-set ears0ORC6 CL E G H235942554ORPHA169017151607213
HP:0000369HP:0000369Low-set ears0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0000369HP:0000369Low-set ears0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0000369HP:0000369Low-set ears0OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0000369HP:0000369Low-set ears0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0000369HP:0000369Low-set ears0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0000369HP:0000369Low-set ears0PAFAH1B1 CL E G H5048217385ORPHA11702558574601545
HP:0000369HP:0000369Low-set ears0PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM124429679614336
HP:0000369HP:0000369Low-set ears0PAX1 CL E G H5075615560Otofaciocervical syndrome 2615560C3714942OMIM110528615167411
HP:0000369HP:0000369Low-set ears0PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM131388632176310
HP:0000369HP:0000369Low-set ears0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1612013406604918
HP:0000369HP:0000369Low-set ears0PCNT CL E G H51162637HemimegalencephalyORPHA18888516068605925
HP:0000369HP:0000369Low-set ears0PEX10 CL E G H5192614870Peroxisome biogenesis disorder 6A614870C3553947OMIM1323478851602859
HP:0000369HP:0000369Low-set ears0PEX12 CL E G H5193614859Peroxisome biogenesis disorder 3A614859C3553929OMIM1371818854601758
HP:0000369HP:0000369Low-set ears0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0000369HP:0000369Low-set ears0PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM12727722965608666
HP:0000369HP:0000369Low-set ears0PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM1101168858603164
HP:0000369HP:0000369Low-set ears0PEX5 CL E G H5830202370Neonatal adrenoleucodystrophy202370C0282525OMIM1142809719600414
HP:0000369HP:0000369Low-set ears0PHOX2B CL E G H8929209880Congenital central hypoventilation209880C1275808OMIM1883879143603851
HP:0000369HP:0000369Low-set ears0PIEZO2 CL E G H638952461ORPHA13232926270613629
HP:0000369HP:0000369Low-set ears0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0000369HP:0000369Low-set ears0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0000369HP:0000369Low-set ears0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0000369HP:0000369Low-set ears0PLCB4 CL E G H5332614669Auriculocondylar syndrome 2614669C3553404OMIM1151659059600810
HP:0000369HP:0000369Low-set ears0PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM13919083603066
HP:0000369HP:0000369Low-set ears0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000369HP:0000369Low-set ears0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19230630074614258
HP:0000369HP:0000369Low-set ears0POR CL E G H544795699ORPHA1922259208124015
HP:0000369HP:0000369Low-set ears0PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0000369HP:0000369Low-set ears0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000369HP:0000369Low-set ears0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0000369HP:0000369Low-set ears0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM112409282600590
HP:0000369HP:0000369Low-set ears0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0000369HP:0000369Low-set ears0PSAT1 CL E G H29968616038Neu-laxova syndrome 2616038C4015019OMIM11032319129610936
HP:0000369HP:0000369Low-set ears0PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM110359557604450
HP:0000369HP:0000369Low-set ears0PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0000369HP:0000369Low-set ears0PTF1A CL E G H25629765288ORPHA1166723734607194
HP:0000369HP:0000369Low-set ears0PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM1166723734607194
HP:0000369HP:0000369Low-set ears0PTH1R CL E G H574550945ORPHA1451009608168468
HP:0000369HP:0000369Low-set ears0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000369HP:0000369Low-set ears0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM1136330262616406
HP:0000369HP:0000369Low-set ears0QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM1109751603727
HP:0000369HP:0000369Low-set ears0QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM192524713617387
HP:0000369HP:0000369Low-set ears0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0000369HP:0000369Low-set ears0RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM117699801602048
HP:0000369HP:0000369Low-set ears0RAF1 CL E G H5894611554LEOPARD syndrome 2611554C1969056OMIM1545089829164760
HP:0000369HP:0000369Low-set ears0RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM1545089829164760
HP:0000369HP:0000369Low-set ears0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA1111311959884614041
HP:0000369HP:0000369Low-set ears0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0000369HP:0000369Low-set ears0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251619965605226
HP:0000369HP:0000369Low-set ears0RET CL E G H59791848ORPHA143214969967164761
HP:0000369HP:0000369Low-set ears0RET CL E G H5979209880Congenital central hypoventilation209880C1275808OMIM143214969967164761
HP:0000369HP:0000369Low-set ears0RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM116222496605706
HP:0000369HP:0000369Low-set ears0RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM12610610023609591
HP:0000369HP:0000369Low-set ears0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM12113318518606034
HP:0000369HP:0000369Low-set ears0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1245634016601428
HP:0000369HP:0000369Low-set ears0RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0000369HP:0000369Low-set ears0RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM1148210345180468
HP:0000369HP:0000369Low-set ears0RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM121310410603683
HP:0000369HP:0000369Low-set ears0RREB1 CL E G H6239567ORPHA11217110449602209
HP:0000369HP:0000369Low-set ears0RSPO2 CL E G H340419618021TETRAAMELIA SYNDROME 2618021CN248528OMIM124128583610575
HP:0000369HP:0000369Low-set ears0RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM143929420616585
HP:0000369HP:0000369Low-set ears0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM148223625611053
HP:0000369HP:0000369Low-set ears0SATB2 CL E G H23314251019ORPHA110627421637608148
HP:0000369HP:0000369Low-set ears0SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM110627421637608148
HP:0000369HP:0000369Low-set ears0SEC24C CL E G H9632567ORPHA12410705607185
HP:0000369HP:0000369Low-set ears0SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM11987323604061
HP:0000369HP:0000369Low-set ears0SETBP1 CL E G H26040798ORPHA14721215573611060
HP:0000369HP:0000369Low-set ears0SETBP1 CL E G H26040616078Mental retardation, autosomal dominant 29616078C4015141OMIM14721215573611060
HP:0000369HP:0000369Low-set ears0SETBP1 CL E G H26040269150Schinzel-Giedion syndrome269150C0265227OMIM14721215573611060
HP:0000369HP:0000369Low-set ears0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0000369HP:0000369Low-set ears0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0000369HP:0000369Low-set ears0SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM1418415454602775
HP:0000369HP:0000369Low-set ears0SIM1 CL E G H6492171829ORPHA15311610882603128
HP:0000369HP:0000369Low-set ears0SKI CL E G H64972462ORPHA12450210896164780
HP:0000369HP:0000369Low-set ears0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM135411056601019
HP:0000369HP:0000369Low-set ears0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0000369HP:0000369Low-set ears0SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM112411107601736
HP:0000369HP:0000369Low-set ears0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000369HP:0000369Low-set ears0SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM1155420318608488
HP:0000369HP:0000369Low-set ears0SNRPB CL E G H6628117650Cerebro-costo-mandibular syndrome117650C0265342OMIM174311153182282
HP:0000369HP:0000369Low-set ears0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0000369HP:0000369Low-set ears0SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0000369HP:0000369Low-set ears0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0000369HP:0000369Low-set ears0SOX9 CL E G H6662140Atresia of small intestineORPHA114915511204608160
HP:0000369HP:0000369Low-set ears0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM114915511204608160
HP:0000369HP:0000369Low-set ears0SPECC1L CL E G H233841519ORPHA1815629022614140
HP:0000369HP:0000369Low-set ears0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0000369HP:0000369Low-set ears0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM149028423615521
HP:0000369HP:0000369Low-set ears0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM1204616950606247
HP:0000369HP:0000369Low-set ears0TAB2 CL E G H23118228410ORPHA1335317075605101
HP:0000369HP:0000369Low-set ears0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM1108811559602063
HP:0000369HP:0000369Low-set ears0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM136626887612758
HP:0000369HP:0000369Low-set ears0TBC1D24 CL E G H5746579500ORPHA15656429203613577
HP:0000369HP:0000369Low-set ears0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM15656429203613577
HP:0000369HP:0000369Low-set ears0TBCE CL E G H6905241410Hypoparathyroidism retardation dysmorphism syndrome241410C1855840OMIM1816111582604934
HP:0000369HP:0000369Low-set ears0TBX1 CL E G H6899567ORPHA18255311592602054
HP:0000369HP:0000369Low-set ears0TBX1 CL E G H6899188400DiGeorge sequence188400C0012236OMIM18255311592602054
HP:0000369HP:0000369Low-set ears0TBX15 CL E G H691393333ORPHA153811594604127
HP:0000369HP:0000369Low-set ears0TBX2 CL E G H6909618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION618223OMIM1155311597600747
HP:0000369HP:0000369Low-set ears0TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM11520325774613846
HP:0000369HP:0000369Low-set ears0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0000369HP:0000369Low-set ears0TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM1129524519613847
HP:0000369HP:0000369Low-set ears0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000369HP:0000369Low-set ears0TFAP2B CL E G H7021169100Char syndrome169100C1868570OMIM1155711743601601
HP:0000369HP:0000369Low-set ears0TGDS CL E G H23483616145Catel Manzke syndrome616145C1844887OMIM178120324616146
HP:0000369HP:0000369Low-set ears0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM153318188614123
HP:0000369HP:0000369Low-set ears0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM166830760614726
HP:0000369HP:0000369Low-set ears0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1810925018613277
HP:0000369HP:0000369Low-set ears0TMEM231 CL E G H795832752ORPHA11915037234614949
HP:0000369HP:0000369Low-set ears0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000369HP:0000369Low-set ears0TMEM70 CL E G H549681194ORPHA11815126050612418
HP:0000369HP:0000369Low-set ears0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM11815126050612418
HP:0000369HP:0000369Low-set ears0TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0000369HP:0000369Low-set ears0TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM156420456606692
HP:0000369HP:0000369Low-set ears0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM16412823639614589
HP:0000369HP:0000369Low-set ears0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM183320778191130
HP:0000369HP:0000369Low-set ears0TWIST1 CL E G H7291101400Saethre-Chotzen syndrome101400C0175699OMIM120911512428601622
HP:0000369HP:0000369Low-set ears0TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM120911512428601622
HP:0000369HP:0000369Low-set ears0TWIST2 CL E G H117581209885Barber-Say syndrome209885C1319466OMIM198820670607556
HP:0000369HP:0000369Low-set ears0UFD1 CL E G H7353567ORPHA1436812520601754
HP:0000369HP:0000369Low-set ears0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM12620426582612636
HP:0000369HP:0000369Low-set ears0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0000369HP:0000369Low-set ears0VAC14 CL E G H556973472MeningococcemiaORPHA177725507604632
HP:0000369HP:0000369Low-set ears0VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM11310220347613401
HP:0000369HP:0000369Low-set ears0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM15817912712608552
HP:0000369HP:0000369Low-set ears0WASHC5 CL E G H9897220210Dandy-Walker like malformation with atrioventricular septal defect220210C0796137OMIM12026828984610657
HP:0000369HP:0000369Low-set ears0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA12026828984610657
HP:0000369HP:0000369Low-set ears0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0000369HP:0000369Low-set ears0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0000369HP:0000369Low-set ears0WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM122212782165330
HP:0000369HP:0000369Low-set ears0WNT4 CL E G H54361611812Serkal syndrome611812C2678492OMIM182912783603490
HP:0000369HP:0000369Low-set ears0WNT7A CL E G H7476276820Ulna and fibula absence of with severe limb deficiency276820C1848651OMIM1115012786601570
HP:0000369HP:0000369Low-set ears0XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1135715517608125
HP:0000369HP:0000369Low-set ears0YWHAE CL E G H7531217385ORPHA14414612851605066
HP:0000369HP:0000369Low-set ears0ZBTB18 CL E G H1047236367ORPHA13213813030608433
HP:0000369HP:0000369Low-set ears0ZBTB18 CL E G H10472612337Mental retardation, autosomal dominant 22612337C2676727OMIM13213813030608433
HP:0000369HP:0000369Low-set ears0ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM11813421143614064
HP:0000369HP:0000369Low-set ears0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM11719424931300897
HP:0000369HP:0000369Low-set ears0ZMPSTE24 CL E G H102691662ORPHA13413612877606480
HP:0000369HP:0000369Low-set ears0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM13413612877606480
HP:0000369HP:0000369Low-set ears1ACOX1 CL E G H512971ORPHA126257119609751
HP:0000369HP:0000369Low-set ears1ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0000369HP:0000369Low-set ears1ACP5 CL E G H54607944Spondyloenchondrodysplasia with immune dysregulation607944C1842763OMIM128103124171640
HP:0000369HP:0000369Low-set ears1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0000369HP:0000369Low-set ears1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0000369HP:0000369Low-set ears1ADGRG6 CL E G H57211616503Lethal congenital contracture syndrome 9616503C4225303OMIM165213841612243
HP:0000369HP:0000369Low-set ears1ADSL CL E G H1584646,XX testicular disorder of sex developmentC2936420ORPHA158279291608222
HP:0000369HP:0000369Low-set ears1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158279291608222
HP:0000369HP:0000369Low-set ears1AHDC1 CL E G H27245615829Xia-Gibbs syndrome615829C4014419OMIM13418425230615790
HP:0000369HP:0000369Low-set ears1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19642221575608894
HP:0000369HP:0000369Low-set ears1ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1332529722138250
HP:0000369HP:0000369Low-set ears1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0000369HP:0000369Low-set ears1ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM11446330881300776
HP:0000369HP:0000369Low-set ears1ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0000369HP:0000369Low-set ears1ALX4 CL E G H60529228390ORPHA127221450605420
HP:0000369HP:0000369Low-set ears1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0000369HP:0000369Low-set ears1ANTXR1 CL E G H841682067ORPHA1142421014606410
HP:0000369HP:0000369Low-set ears1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0000369HP:0000369Low-set ears1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1490568607246
HP:0000369HP:0000369Low-set ears1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000369HP:0000369Low-set ears1ARVCF CL E G H421567ORPHA12477728602269
HP:0000369HP:0000369Low-set ears1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM19846618060300382
HP:0000369HP:0000369Low-set ears1ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM1630738100790
HP:0000369HP:0000369Low-set ears1ASXL1 CL E G H17102397297ORPHA14119918318612990
HP:0000369HP:0000369Low-set ears1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0000369HP:0000369Low-set ears1ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM168123805612991
HP:0000369HP:0000369Low-set ears1ATIC CL E G H471250977ORPHA1857794601731
HP:0000369HP:0000369Low-set ears1ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1857794601731
HP:0000369HP:0000369Low-set ears1ATP6V0A2 CL E G H23545357074ORPHA15630918481611716
HP:0000369HP:0000369Low-set ears1ATP6V0A2 CL E G H235452834ORPHA15630918481611716
HP:0000369HP:0000369Low-set ears1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0000369HP:0000369Low-set ears1ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15630918481611716
HP:0000369HP:0000369Low-set ears1ATP6V1A CL E G H523357074ORPHA1947851607027
HP:0000369HP:0000369Low-set ears1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0000369HP:0000369Low-set ears1ATP6V1E1 CL E G H529357074ORPHA1278857108746
HP:0000369HP:0000369Low-set ears1ATP6V1E1 CL E G H529617402CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC617402C4479387OMIM1278857108746
HP:0000369HP:0000369Low-set ears1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1218718802608918
HP:0000369HP:0000369Low-set ears1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0000369HP:0000369Low-set ears1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000369HP:0000369Low-set ears1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000369HP:0000369Low-set ears1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16224214262607270
HP:0000369HP:0000369Low-set ears1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0000369HP:0000369Low-set ears1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000369HP:0000369Low-set ears1B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM19138930604327
HP:0000369HP:0000369Low-set ears1BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM1328713221606557
HP:0000369HP:0000369Low-set ears1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0000369HP:0000369Low-set ears1BMP2 CL E G H650617877SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES617877CN807949OMIM137691069112261
HP:0000369HP:0000369Low-set ears1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM11914824154608699
HP:0000369HP:0000369Low-set ears1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000369HP:0000369Low-set ears1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0000369HP:0000369Low-set ears1BRAF CL E G H673613706Noonan syndrome 7613706C3150970OMIM1684901097164757
HP:0000369HP:0000369Low-set ears1BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM11712311551604902
HP:0000369HP:0000369Low-set ears1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000369HP:0000369Low-set ears1C12orf57 CL E G H1132461777ORPHA1812529521615140
HP:0000369HP:0000369Low-set ears1C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM1812529521615140
HP:0000369HP:0000369Low-set ears1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM11123218806611501
HP:0000369HP:0000369Low-set ears1CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0000369HP:0000369Low-set ears1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0000369HP:0000369Low-set ears1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0000369HP:0000369Low-set ears1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA1722128909300859
HP:0000369HP:0000369Low-set ears1CCNK CL E G H8812618147INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES618147OMIM1321596603544
HP:0000369HP:0000369Low-set ears1CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0000369HP:0000369Low-set ears1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0000369HP:0000369Low-set ears1CDC45 CL E G H83182554ORPHA1193981739603465
HP:0000369HP:0000369Low-set ears1CDC6 CL E G H9902554ORPHA14581744602627
HP:0000369HP:0000369Low-set ears1CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14581744602627
HP:0000369HP:0000369Low-set ears1CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0000369HP:0000369Low-set ears1CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0000369HP:0000369Low-set ears1CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0000369HP:0000369Low-set ears1CDKN1C CL E G H102885173ORPHA1814711786600856
HP:0000369HP:0000369Low-set ears1CDKN1C CL E G H1028614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies614732C1846009OMIM1814711786600856
HP:0000369HP:0000369Low-set ears1CDT1 CL E G H816202554ORPHA11215824576605525
HP:0000369HP:0000369Low-set ears1CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM11215824576605525
HP:0000369HP:0000369Low-set ears1CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM11028517272609279
HP:0000369HP:0000369Low-set ears1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11716820311616327
HP:0000369HP:0000369Low-set ears1CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM1231341919603277
HP:0000369HP:0000369Low-set ears1CHRNA1 CL E G H1134253290Lethal multiple pterygium syndrome253290C1854678OMIM1362361955100690
HP:0000369HP:0000369Low-set ears1CHRND CL E G H1144253290Lethal multiple pterygium syndrome253290C1854678OMIM1262531965100720
HP:0000369HP:0000369Low-set ears1CHRNG CL E G H11462990ORPHA1351601967100730
HP:0000369HP:0000369Low-set ears1CHRNG CL E G H1146253290Lethal multiple pterygium syndrome253290C1854678OMIM1351601967100730
HP:0000369HP:0000369Low-set ears1CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM1351601967100730
HP:0000369HP:0000369Low-set ears1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0000369HP:0000369Low-set ears1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM121758011602346
HP:0000369HP:0000369Low-set ears1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0000369HP:0000369Low-set ears1COL11A1 CL E G H13012021ORPHA11065602186120280
HP:0000369HP:0000369Low-set ears1COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0000369HP:0000369Low-set ears1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0000369HP:0000369Low-set ears1COL11A2 CL E G H13022021ORPHA1594712187120290
HP:0000369HP:0000369Low-set ears1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13682190120350
HP:0000369HP:0000369Low-set ears1COL2A1 CL E G H128085166ORPHA15707312200120140
HP:0000369HP:0000369Low-set ears1COMT CL E G H1312567ORPHA1155552228116790
HP:0000369HP:0000369Low-set ears1CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0000369HP:0000369Low-set ears1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0000369HP:0000369Low-set ears1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000369HP:0000369Low-set ears1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM137562364604237
HP:0000369HP:0000369Low-set ears1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0000369HP:0000369Low-set ears1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1193322529116840
HP:0000369HP:0000369Low-set ears1CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM1410328005617057
HP:0000369HP:0000369Low-set ears1CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM175310664617170
HP:0000369HP:0000369Low-set ears1DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM129529812610534
HP:0000369HP:0000369Low-set ears1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000369HP:0000369Low-set ears1DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM1201252867126064
HP:0000369HP:0000369Low-set ears1DIS3L2 CL E G H1295632849ORPHA11488128648614184
HP:0000369HP:0000369Low-set ears1DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM11488128648614184
HP:0000369HP:0000369Low-set ears1DLX4 CL E G H1748616788Orofacial cleft 15616788C4225209OMIM11222917601911
HP:0000369HP:0000369Low-set ears1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM1572672979602900
HP:0000369HP:0000369Low-set ears1DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM12221919189614194
HP:0000369HP:0000369Low-set ears1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000369HP:0000369Low-set ears1DPH1 CL E G H1801616901Developmental delay with short stature, dysmorphic features, and sparse hair616901C4310801OMIM16923003603527
HP:0000369HP:0000369Low-set ears1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0000369HP:0000369Low-set ears1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0000369HP:0000369Low-set ears1EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0000369HP:0000369Low-set ears1EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM1211173178131242
HP:0000369HP:0000369Low-set ears1EDNRA CL E G H1909616367Mandibulofacial dysostosis with alopecia616367C4225349OMIM110413179131243
HP:0000369HP:0000369Low-set ears1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0000369HP:0000369Low-set ears1EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM1122603192602959
HP:0000369HP:0000369Low-set ears1EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM1171803219604633
HP:0000369HP:0000369Low-set ears1EFTUD2 CL E G H934379113ORPHA110112430858603892
HP:0000369HP:0000369Low-set ears1EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM110112430858603892
HP:0000369HP:0000369Low-set ears1EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM123418683608546
HP:0000369HP:0000369Low-set ears1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000369HP:0000369Low-set ears1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0000369HP:0000369Low-set ears1ERCC4 CL E G H2072615272Fanconi anemia, complementation group Q615272C3808988OMIM1723483436133520
HP:0000369HP:0000369Low-set ears1ERCC5 CL E G H2073616570Cerebrooculofacioskeletal syndrome 3616570C1851443OMIM1592633437133530
HP:0000369HP:0000369Low-set ears1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000369HP:0000369Low-set ears1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0000369HP:0000369Low-set ears1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM12212903519601653
HP:0000369HP:0000369Low-set ears1FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA12813922140611061
HP:0000369HP:0000369Low-set ears1FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM12813922140611061
HP:0000369HP:0000369Low-set ears1FANCB CL E G H2187300514Fanconi anemia, complementation group B300514C1845292OMIM1213523583300515
HP:0000369HP:0000369Low-set ears1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0000369HP:0000369Low-set ears1FBN1 CL E G H22002462ORPHA1272142843603134797
HP:0000369HP:0000369Low-set ears1FBN1 CL E G H2200284979ORPHA1272142843603134797
HP:0000369HP:0000369Low-set ears1FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0000369HP:0000369Low-set ears1FGF20 CL E G H262811848ORPHA13823677605558
HP:0000369HP:0000369Low-set ears1FGFR1 CL E G H226093258ORPHA12653883688136350
HP:0000369HP:0000369Low-set ears1FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0000369HP:0000369Low-set ears1FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0000369HP:0000369Low-set ears1FGFR2 CL E G H226393258ORPHA11593363689176943
HP:0000369HP:0000369Low-set ears1FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0000369HP:0000369Low-set ears1FGFR2 CL E G H2263313855ORPHA11593363689176943
HP:0000369HP:0000369Low-set ears1FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0000369HP:0000369Low-set ears1FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM11593363689176943
HP:0000369HP:0000369Low-set ears1FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM11593363689176943
HP:0000369HP:0000369Low-set ears1FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM1623703702300163
HP:0000369HP:0000369Low-set ears1FIG4 CL E G H98963472MeningococcemiaORPHA17142516873609390
HP:0000369HP:0000369Low-set ears1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0000369HP:0000369Low-set ears1FLNA CL E G H231690652ORPHA127114723754300017
HP:0000369HP:0000369Low-set ears1FLNA CL E G H2316300048Intestinal pseudoobstruction neuronal chronic idiopathic X-linked300048C2746068OMIM127114723754300017
HP:0000369HP:0000369Low-set ears1FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0000369HP:0000369Low-set ears1FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM127114723754300017
HP:0000369HP:0000369Low-set ears1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000369HP:0000369Low-set ears1FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM125325491616305
HP:0000369HP:0000369Low-set ears1GATA4 CL E G H2626251071ORPHA11713414173600576
HP:0000369HP:0000369Low-set ears1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0000369HP:0000369Low-set ears1GDNF CL E G H2668209880Congenital central hypoventilation209880C1275808OMIM1111194232600837
HP:0000369HP:0000369Low-set ears1GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0000369HP:0000369Low-set ears1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1371864289300474
HP:0000369HP:0000369Low-set ears1GLE1 CL E G H2733611890Lethal arthrogryposis with anterior horn cell disease611890C2678471OMIM1181644315603371
HP:0000369HP:0000369Low-set ears1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM11946328510610192
HP:0000369HP:0000369Low-set ears1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM131774341138290
HP:0000369HP:0000369Low-set ears1GMNN CL E G H510532554ORPHA132117493602842
HP:0000369HP:0000369Low-set ears1GNAI3 CL E G H2773602483Auriculocondylar syndrome 1602483C1865295OMIM112244387139370
HP:0000369HP:0000369Low-set ears1GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122247523657603824
HP:0000369HP:0000369Low-set ears1GNE CL E G H10020269921Sialuria269921C0342853OMIM122247523657603824
HP:0000369HP:0000369Low-set ears1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0000369HP:0000369Low-set ears1GP1BB CL E G H2812567ORPHA1534044440138720
HP:0000369HP:0000369Low-set ears1GPC6 CL E G H1008293329ORPHA192484454604404
HP:0000369HP:0000369Low-set ears1GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA1216330677301003
HP:0000369HP:0000369Low-set ears1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA1105818062138210
HP:0000369HP:0000369Low-set ears1GREB1L CL E G H800001848ORPHA1398731042617782
HP:0000369HP:0000369Low-set ears1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM15214670607434
HP:0000369HP:0000369Low-set ears1HDAC6 CL E G H10013163966ORPHA1319614064300272
HP:0000369HP:0000369Low-set ears1HDAC6 CL E G H10013300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia300863C3275476OMIM1319614064300272
HP:0000369HP:0000369Low-set ears1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0000369HP:0000369Low-set ears1HIRA CL E G H7290567ORPHA153994916600237
HP:0000369HP:0000369Low-set ears1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0000369HP:0000369Low-set ears1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0000369HP:0000369Low-set ears1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0000369HP:0000369Low-set ears1ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0000369HP:0000369Low-set ears1IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0000369HP:0000369Low-set ears1IGBP1 CL E G H347652055ORPHA121425461300139
HP:0000369HP:0000369Low-set ears1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM121425461300139
HP:0000369HP:0000369Low-set ears1IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM111675466147470
HP:0000369HP:0000369Low-set ears1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15432521474613037
HP:0000369HP:0000369Low-set ears1INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM11964076091147670
HP:0000369HP:0000369Low-set ears1IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM164014361606195
HP:0000369HP:0000369Low-set ears1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0000369HP:0000369Low-set ears1ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM129013890606409
HP:0000369HP:0000369Low-set ears1ITGA8 CL E G H85161848ORPHA18566144604063
HP:0000369HP:0000369Low-set ears1ITGA8 CL E G H8516191830Renal adysplasia191830C1619700OMIM18566144604063
HP:0000369HP:0000369Low-set ears1JMJD1C CL E G H221037567ORPHA12950912313604503
HP:0000369HP:0000369Low-set ears1KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM12921913013601408
HP:0000369HP:0000369Low-set ears1KAT6B CL E G H235223047ORPHA17622817582605880
HP:0000369HP:0000369Low-set ears1KAT6B CL E G H2352285201ORPHA17622817582605880
HP:0000369HP:0000369Low-set ears1KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM17622817582605880
HP:0000369HP:0000369Low-set ears1KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM1943436263600681
HP:0000369HP:0000369Low-set ears1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM1114918249613420
HP:0000369HP:0000369Low-set ears1KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0000369HP:0000369Low-set ears1KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0000369HP:0000369Low-set ears1KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0000369HP:0000369Low-set ears1KIF7 CL E G H374654166024ORPHA14538630497611254
HP:0000369HP:0000369Low-set ears1KLHL7 CL E G H5597597297ORPHA11412715646611119
HP:0000369HP:0000369Low-set ears1KMT2A CL E G H4297605130Wiedemann-Steiner syndrome605130C1854630OMIM11273797132159555
HP:0000369HP:0000369Low-set ears1KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM1452746407190070
HP:0000369HP:0000369Low-set ears1KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM1452746407190070
HP:0000369HP:0000369Low-set ears1LARP7 CL E G H51574615071Alazami syndrome615071C3554439OMIM1116524912612026
HP:0000369HP:0000369Low-set ears1LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM1281726518600024
HP:0000369HP:0000369Low-set ears1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM1323466597151443
HP:0000369HP:0000369Low-set ears1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM1910423038612625
HP:0000369HP:0000369Low-set ears1LMNA CL E G H40001662ORPHA157411526636150330
HP:0000369HP:0000369Low-set ears1LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM157411526636150330
HP:0000369HP:0000369Low-set ears1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM1466006694600073
HP:0000369HP:0000369Low-set ears1LRRC8A CL E G H56262613506Agammaglobulinemia 5, autosomal dominant613506C3150753OMIM137419027608360
HP:0000369HP:0000369Low-set ears1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM1221726776177075
HP:0000369HP:0000369Low-set ears1MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0000369HP:0000369Low-set ears1MARS2 CL E G H92935616430Combined oxidative phosphorylation deficiency 25616430C4225329OMIM167425133609728
HP:0000369HP:0000369Low-set ears1MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000369HP:0000369Low-set ears1MBTPS2 CL E G H5136085284ORPHA12620715455300294
HP:0000369HP:0000369Low-set ears1MCM5 CL E G H4174617564MEIER-GORLIN SYNDROME 8617564C4479655OMIM13316948602696
HP:0000369HP:0000369Low-set ears1MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0000369HP:0000369Low-set ears1MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0000369HP:0000369Low-set ears1MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM13465011957300188
HP:0000369HP:0000369Low-set ears1MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0000369HP:0000369Low-set ears1MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM1892456996600662
HP:0000369HP:0000369Low-set ears1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM1192253233604267
HP:0000369HP:0000369Low-set ears1MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0000369HP:0000369Low-set ears1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0000369HP:0000369Low-set ears1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM115114048609204
HP:0000369HP:0000369Low-set ears1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0000369HP:0000369Low-set ears1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0000369HP:0000369Low-set ears1MYCN CL E G H4613164280Feingold syndrome 1164280C0796068OMIM1461037559164840
HP:0000369HP:0000369Low-set ears1MYO18B CL E G H84700616549Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism616549C4225285OMIM1613818150607295
HP:0000369HP:0000369Low-set ears1MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0000369HP:0000369Low-set ears1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0000369HP:0000369Low-set ears1NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11029618704300013
HP:0000369HP:0000369Low-set ears1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16524719082611549
HP:0000369HP:0000369Low-set ears1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM132130107720161650
HP:0000369HP:0000369Low-set ears1NFIA CL E G H4774613735Brain malformations and urinary tract defects613735C3151036OMIM117797784600727
HP:0000369HP:0000369Low-set ears1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM11041547788164005
HP:0000369HP:0000369Low-set ears1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0000369HP:0000369Low-set ears1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM1813947882600275
HP:0000369HP:0000369Low-set ears1NOTCH3 CL E G H48542789ORPHA13795917883600276
HP:0000369HP:0000369Low-set ears1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM13795917883600276
HP:0000369HP:0000369Low-set ears1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM1141817989164790
HP:0000369HP:0000369Low-set ears1OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0000369HP:0000369Low-set ears1OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM11625102567300170
HP:0000369HP:0000369Low-set ears1OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0000369HP:0000369Low-set ears1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0000369HP:0000369Low-set ears1ORC1 CL E G H49982554ORPHA1121038487601902
HP:0000369HP:0000369Low-set ears1ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0000369HP:0000369Low-set ears1ORC4 CL E G H50002554ORPHA16878490603056
HP:0000369HP:0000369Low-set ears1ORC6 CL E G H235942554ORPHA169017151607213
HP:0000369HP:0000369Low-set ears1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0000369HP:0000369Low-set ears1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0000369HP:0000369Low-set ears1OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0000369HP:0000369Low-set ears1OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0000369HP:0000369Low-set ears1PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0000369HP:0000369Low-set ears1PAFAH1B1 CL E G H5048217385ORPHA11702558574601545
HP:0000369HP:0000369Low-set ears1PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM124429679614336
HP:0000369HP:0000369Low-set ears1PAX1 CL E G H5075615560Otofaciocervical syndrome 2615560C3714942OMIM110528615167411
HP:0000369HP:0000369Low-set ears1PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM131388632176310
HP:0000369HP:0000369Low-set ears1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1612013406604918
HP:0000369HP:0000369Low-set ears1PCNT CL E G H51162637HemimegalencephalyORPHA18888516068605925
HP:0000369HP:0000369Low-set ears1PEX10 CL E G H5192614870Peroxisome biogenesis disorder 6A614870C3553947OMIM1323478851602859
HP:0000369HP:0000369Low-set ears1PEX12 CL E G H5193614859Peroxisome biogenesis disorder 3A614859C3553929OMIM1371818854601758
HP:0000369HP:0000369Low-set ears1PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1182089717170993
HP:0000369HP:0000369Low-set ears1PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM12727722965608666
HP:0000369HP:0000369Low-set ears1PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM1101168858603164
HP:0000369HP:0000369Low-set ears1PEX5 CL E G H5830202370Neonatal adrenoleucodystrophy202370C0282525OMIM1142809719600414
HP:0000369HP:0000369Low-set ears1PHOX2B CL E G H8929209880Congenital central hypoventilation209880C1275808OMIM1883879143603851
HP:0000369HP:0000369Low-set ears1PIEZO2 CL E G H638952461ORPHA13232926270613629
HP:0000369HP:0000369Low-set ears1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0000369HP:0000369Low-set ears1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0000369HP:0000369Low-set ears1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0000369HP:0000369Low-set ears1PLCB4 CL E G H5332614669Auriculocondylar syndrome 2614669C3553404OMIM1151659059600810
HP:0000369HP:0000369Low-set ears1PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM13919083603066
HP:0000369HP:0000369Low-set ears1POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000369HP:0000369Low-set ears1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19230630074614258
HP:0000369HP:0000369Low-set ears1POR CL E G H544795699ORPHA1922259208124015
HP:0000369HP:0000369Low-set ears1PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0000369HP:0000369Low-set ears1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000369HP:0000369Low-set ears1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0000369HP:0000369Low-set ears1PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM112409282600590
HP:0000369HP:0000369Low-set ears1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0000369HP:0000369Low-set ears1PSAT1 CL E G H29968616038Neu-laxova syndrome 2616038C4015019OMIM11032319129610936
HP:0000369HP:0000369Low-set ears1PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM110359557604450
HP:0000369HP:0000369Low-set ears1PTCH1 CL E G H572777301ORPHA152920319585601309
HP:0000369HP:0000369Low-set ears1PTF1A CL E G H25629765288ORPHA1166723734607194
HP:0000369HP:0000369Low-set ears1PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM1166723734607194
HP:0000369HP:0000369Low-set ears1PTH1R CL E G H574550945ORPHA1451009608168468
HP:0000369HP:0000369Low-set ears1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000369HP:0000369Low-set ears1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM1136330262616406
HP:0000369HP:0000369Low-set ears1QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM1109751603727
HP:0000369HP:0000369Low-set ears1QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM192524713617387
HP:0000369HP:0000369Low-set ears1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0000369HP:0000369Low-set ears1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM117699801602048
HP:0000369HP:0000369Low-set ears1RAF1 CL E G H5894611554LEOPARD syndrome 2611554C1969056OMIM1545089829164760
HP:0000369HP:0000369Low-set ears1RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM1545089829164760
HP:0000369HP:0000369Low-set ears1RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA1111311959884614041
HP:0000369HP:0000369Low-set ears1RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0000369HP:0000369Low-set ears1RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251619965605226
HP:0000369HP:0000369Low-set ears1RET CL E G H59791848ORPHA143214969967164761
HP:0000369HP:0000369Low-set ears1RET CL E G H5979209880Congenital central hypoventilation209880C1275808OMIM143214969967164761
HP:0000369HP:0000369Low-set ears1RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM116222496605706
HP:0000369HP:0000369Low-set ears1RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM12610610023609591
HP:0000369HP:0000369Low-set ears1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM12113318518606034
HP:0000369HP:0000369Low-set ears1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1245634016601428
HP:0000369HP:0000369Low-set ears1RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0000369HP:0000369Low-set ears1RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM1148210345180468
HP:0000369HP:0000369Low-set ears1RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM121310410603683
HP:0000369HP:0000369Low-set ears1RREB1 CL E G H6239567ORPHA11217110449602209
HP:0000369HP:0000369Low-set ears1RSPO2 CL E G H340419618021TETRAAMELIA SYNDROME 2618021CN248528OMIM124128583610575
HP:0000369HP:0000369Low-set ears1RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM143929420616585
HP:0000369HP:0000369Low-set ears1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM148223625611053
HP:0000369HP:0000369Low-set ears1SATB2 CL E G H23314251019ORPHA110627421637608148
HP:0000369HP:0000369Low-set ears1SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM110627421637608148
HP:0000369HP:0000369Low-set ears1SEC24C CL E G H9632567ORPHA12410705607185
HP:0000369HP:0000369Low-set ears1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100