Human Phenotype Ontology 
Grandparent Node:
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Abnormal jaw morphology (HP:0030791)help
Parent Node:
expand
Abnormality of the mandible (HP:0000277)help
..Starting node
..expand
Retrognathia (HP:0000278)help
Term ID: 278
Name: Retrognathia
Synonym: Lower jaw retrognathia; Receding chin; Receding lower jaw; Receding mandible; Retrogenia; Retrognathia of lower jaw; Weak chin; Weak jaw
Definition: An abnormality in which the mandible is mislocalised posteriorly.
Comments:
Reference: HP:0000278
Genes and Diseases:
 
       Child Nodes:
........expandMicroretrognathia (HP:0000308) help

 Sister Nodes: 
..expandAbnormal mandible condylar process morphology (HP:3000077) help
..expandAbnormal mandible coronoid process morphology (HP:3000078) help
..expandAbnormal mandibular ramus morphology (HP:3000003) help
..expandAbnormality of the temporomandibular joint (HP:0010754) help
..expandAplasia/Hypoplasia of the mandible (HP:0009118) help
..expandAsymmetry of the mandible (HP:0009940) help
..expandBroad jaw (HP:0012802) help
..expandFibrous syngnathia (HP:0009754) help
..expandGiant cell granuloma of mandible (HP:0100955) help
..expandIncreased size of the mandible (HP:0040309) help
..expandJaw ankylosis (HP:0040263) help
..expandMandibular osteomyelitis (HP:0007626) help
..expandMandibular pain (HP:0200025) help
..expandMandibular prognathia (HP:0000303) help
..expandMidline defect of mandible (HP:0010753) help
..expandNarrow jaw (HP:0012801) help
..expandObtuse angle of mandible (HP:0005446) help
..expandRecurrent mandibular subluxations (HP:0005332) help
..expandTrismus (HP:0000211) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000278HP:0000278Retrognathia0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM141723137150
HP:0000278HP:0000278Retrognathia0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM150723137150
HP:0000278HP:0000278Retrognathia0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0000278HP:0000278Retrognathia0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0000278HP:0000278Retrognathia0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0000278HP:0000278Retrognathia0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0000278HP:0000278Retrognathia0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0000278HP:0000278Retrognathia0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0000278HP:0000278Retrognathia0ADAMTS2 CL E G H95091901ORPHA11000218604539
HP:0000278HP:0000278Retrognathia0ADAMTS2 CL E G H95091901ORPHA1920218604539
HP:0000278HP:0000278Retrognathia0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1226568607246
HP:0000278HP:0000278Retrognathia0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1394568607246
HP:0000278HP:0000278Retrognathia0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0000278HP:0000278Retrognathia0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0000278HP:0000278Retrognathia0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0000278HP:0000278Retrognathia0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0000278HP:0000278Retrognathia0ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM16216876606036
HP:0000278HP:0000278Retrognathia0ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM18416876606036
HP:0000278HP:0000278Retrognathia0ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1116757600582
HP:0000278HP:0000278Retrognathia0ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1122757600582
HP:0000278HP:0000278Retrognathia0ASXL1 CL E G H17102397297ORPHA138818318612990
HP:0000278HP:0000278Retrognathia0ASXL1 CL E G H17102397297ORPHA129818318612990
HP:0000278HP:0000278Retrognathia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0000278HP:0000278Retrognathia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0000278HP:0000278Retrognathia0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM111123805612991
HP:0000278HP:0000278Retrognathia0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM117023805612991
HP:0000278HP:0000278Retrognathia0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM193851607027
HP:0000278HP:0000278Retrognathia0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM179851607027
HP:0000278HP:0000278Retrognathia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM120918802608918
HP:0000278HP:0000278Retrognathia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM121918802608918
HP:0000278HP:0000278Retrognathia0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM112513221606557
HP:0000278HP:0000278Retrognathia0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM112913221606557
HP:0000278HP:0000278Retrognathia0BIN1 CL E G H274169186ORPHA14871052601248
HP:0000278HP:0000278Retrognathia0BIN1 CL E G H274169186ORPHA14311052601248
HP:0000278HP:0000278Retrognathia0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0000278HP:0000278Retrognathia0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0000278HP:0000278Retrognathia0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM132225523609736
HP:0000278HP:0000278Retrognathia0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM16725523609736
HP:0000278HP:0000278Retrognathia0CDC45 CL E G H83182554ORPHA15421739603465
HP:0000278HP:0000278Retrognathia0CDC45 CL E G H83182554ORPHA15001739603465
HP:0000278HP:0000278Retrognathia0CDC6 CL E G H9902554ORPHA1831744602627
HP:0000278HP:0000278Retrognathia0CDC6 CL E G H9902554ORPHA1711744602627
HP:0000278HP:0000278Retrognathia0CDT1 CL E G H816202554ORPHA129324576605525
HP:0000278HP:0000278Retrognathia0CDT1 CL E G H816202554ORPHA121624576605525
HP:0000278HP:0000278Retrognathia0CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM134717272609279
HP:0000278HP:0000278Retrognathia0CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM139917272609279
HP:0000278HP:0000278Retrognathia0CEP135 CL E G H9662614673Primary autosomal recessive microcephaly 8614673C3553414OMIM117629086611423
HP:0000278HP:0000278Retrognathia0CEP135 CL E G H9662614673Primary autosomal recessive microcephaly 8614673C3553414OMIM124529086611423
HP:0000278HP:0000278Retrognathia0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM133429298613529
HP:0000278HP:0000278Retrognathia0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM140429298613529
HP:0000278HP:0000278Retrognathia0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM121118622606978
HP:0000278HP:0000278Retrognathia0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM125418622606978
HP:0000278HP:0000278Retrognathia0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM11792190120350
HP:0000278HP:0000278Retrognathia0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM12942190120350
HP:0000278HP:0000278Retrognathia0COL1A1 CL E G H12771899ORPHA116552197120150
HP:0000278HP:0000278Retrognathia0COL1A1 CL E G H12771899ORPHA113972197120150
HP:0000278HP:0000278Retrognathia0COL1A2 CL E G H12781899ORPHA112032198120160
HP:0000278HP:0000278Retrognathia0COL1A2 CL E G H12781899ORPHA110422198120160
HP:0000278HP:0000278Retrognathia0COX7B CL E G H13492556ORPHA11752291300885
HP:0000278HP:0000278Retrognathia0COX7B CL E G H13492556ORPHA11712291300885
HP:0000278HP:0000278Retrognathia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000278HP:0000278Retrognathia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000278HP:0000278Retrognathia0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1712364604237
HP:0000278HP:0000278Retrognathia0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11872494602618
HP:0000278HP:0000278Retrognathia0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11742494602618
HP:0000278HP:0000278Retrognathia0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM114228005617057
HP:0000278HP:0000278Retrognathia0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM112828005617057
HP:0000278HP:0000278Retrognathia0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000278HP:0000278Retrognathia0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000278HP:0000278Retrognathia0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000278HP:0000278Retrognathia0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000278HP:0000278Retrognathia0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000278HP:0000278Retrognathia0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000278HP:0000278Retrognathia0DHCR24 CL E G H171835107ORPHA11982859606418
HP:0000278HP:0000278Retrognathia0DHCR24 CL E G H171835107ORPHA11802859606418
HP:0000278HP:0000278Retrognathia0DIS3L2 CL E G H1295632849ORPHA1150528648614184
HP:0000278HP:0000278Retrognathia0DIS3L2 CL E G H1295632849ORPHA1124928648614184
HP:0000278HP:0000278Retrognathia0DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM18629043612666
HP:0000278HP:0000278Retrognathia0DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM17529043612666
HP:0000278HP:0000278Retrognathia0DVL1 CL E G H18553107ORPHA14083084601365
HP:0000278HP:0000278Retrognathia0DVL1 CL E G H18553107ORPHA13473084601365
HP:0000278HP:0000278Retrognathia0DVL3 CL E G H18573107ORPHA11413087601368
HP:0000278HP:0000278Retrognathia0DVL3 CL E G H18573107ORPHA11123087601368
HP:0000278HP:0000278Retrognathia0EDN1 CL E G H1906615706Auriculocondylar syndrome 3615706C3810332OMIM1513176131240
HP:0000278HP:0000278Retrognathia0EDN1 CL E G H1906615706Auriculocondylar syndrome 3615706C3810332OMIM1523176131240
HP:0000278HP:0000278Retrognathia0EED CL E G H87263447ORPHA1863188605984
HP:0000278HP:0000278Retrognathia0EED CL E G H87263447ORPHA1803188605984
HP:0000278HP:0000278Retrognathia0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0000278HP:0000278Retrognathia0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0000278HP:0000278Retrognathia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000278HP:0000278Retrognathia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000278HP:0000278Retrognathia0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM16783373602700
HP:0000278HP:0000278Retrognathia0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM17313373602700
HP:0000278HP:0000278Retrognathia0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000278HP:0000278Retrognathia0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000278HP:0000278Retrognathia0ERF CL E G H2077600775Lambdoidal craniosynostosis600775C1833340OMIM11113444611888
HP:0000278HP:0000278Retrognathia0ERF CL E G H2077600775Lambdoidal craniosynostosis600775C1833340OMIM11203444611888
HP:0000278HP:0000278Retrognathia0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000278HP:0000278Retrognathia0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000278HP:0000278Retrognathia0EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM13673519601653
HP:0000278HP:0000278Retrognathia0EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM14043519601653
HP:0000278HP:0000278Retrognathia0EZH2 CL E G H21463447ORPHA13643527601573
HP:0000278HP:0000278Retrognathia0EZH2 CL E G H21463447ORPHA13293527601573
HP:0000278HP:0000278Retrognathia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13293527601573
HP:0000278HP:0000278Retrognathia0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13643527601573
HP:0000278HP:0000278Retrognathia0FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA129122140611061
HP:0000278HP:0000278Retrognathia0FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA124522140611061
HP:0000278HP:0000278Retrognathia0FBN1 CL E G H22002462ORPHA154573603134797
HP:0000278HP:0000278Retrognathia0FBN1 CL E G H22002462ORPHA149683603134797
HP:0000278HP:0000278Retrognathia0FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM149683603134797
HP:0000278HP:0000278Retrognathia0FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM154573603134797
HP:0000278HP:0000278Retrognathia0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM149683603134797
HP:0000278HP:0000278Retrognathia0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM154573603134797
HP:0000278HP:0000278Retrognathia0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM14373702300163
HP:0000278HP:0000278Retrognathia0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM14863702300163
HP:0000278HP:0000278Retrognathia0FOXE1 CL E G H23041226Cervical hypertrichosis peripheral neuropathyORPHA1703806602617
HP:0000278HP:0000278Retrognathia0FOXE1 CL E G H23041226Cervical hypertrichosis peripheral neuropathyORPHA1693806602617
HP:0000278HP:0000278Retrognathia0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000278HP:0000278Retrognathia0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000278HP:0000278Retrognathia0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM131829007300838
HP:0000278HP:0000278Retrognathia0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM133629007300838
HP:0000278HP:0000278Retrognathia0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM115224678610966
HP:0000278HP:0000278Retrognathia0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM117724678610966
HP:0000278HP:0000278Retrognathia0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM1664019602589
HP:0000278HP:0000278Retrognathia0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM1584019602589
HP:0000278HP:0000278Retrognathia0FZD2 CL E G H25353107ORPHA1544040600667
HP:0000278HP:0000278Retrognathia0FZD2 CL E G H25353107ORPHA1374040600667
HP:0000278HP:0000278Retrognathia0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12614177606463
HP:0000278HP:0000278Retrognathia0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12694177606463
HP:0000278HP:0000278Retrognathia0GMNN CL E G H510532554ORPHA14517493602842
HP:0000278HP:0000278Retrognathia0GMNN CL E G H510532554ORPHA13917493602842
HP:0000278HP:0000278Retrognathia0HBA1 CL E G H303998791ORPHA13754823141800
HP:0000278HP:0000278Retrognathia0HBA1 CL E G H303998791ORPHA13694823141800
HP:0000278HP:0000278Retrognathia0HBA2 CL E G H304098791ORPHA13204824141850
HP:0000278HP:0000278Retrognathia0HBA2 CL E G H304098791ORPHA13034824141850
HP:0000278HP:0000278Retrognathia0HCCS CL E G H30522556ORPHA12204837300056
HP:0000278HP:0000278Retrognathia0HCCS CL E G H30522556ORPHA12144837300056
HP:0000278HP:0000278Retrognathia0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM126913315300269
HP:0000278HP:0000278Retrognathia0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM128713315300269
HP:0000278HP:0000278Retrognathia0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM16395213601860
HP:0000278HP:0000278Retrognathia0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM15605213601860
HP:0000278HP:0000278Retrognathia0HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0000278HP:0000278Retrognathia0HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0000278HP:0000278Retrognathia0HYMAI CL E G H5706196191ORPHA1165326606546
HP:0000278HP:0000278Retrognathia0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0000278HP:0000278Retrognathia0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0000278HP:0000278Retrognathia0IGBP1 CL E G H347652055ORPHA11565461300139
HP:0000278HP:0000278Retrognathia0IGBP1 CL E G H347652055ORPHA11535461300139
HP:0000278HP:0000278Retrognathia0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11535461300139
HP:0000278HP:0000278Retrognathia0IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11565461300139
HP:0000278HP:0000278Retrognathia0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM16805465147370
HP:0000278HP:0000278Retrognathia0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM16625465147370
HP:0000278HP:0000278Retrognathia0IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM1785466147470
HP:0000278HP:0000278Retrognathia0IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM1875466147470
HP:0000278HP:0000278Retrognathia0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154537276614631
HP:0000278HP:0000278Retrognathia0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154937276614631
HP:0000278HP:0000278Retrognathia0ITGA8 CL E G H8516191830Renal adysplasia191830C1619700OMIM11446144604063
HP:0000278HP:0000278Retrognathia0ITGA8 CL E G H8516191830Renal adysplasia191830C1619700OMIM11526144604063
HP:0000278HP:0000278Retrognathia0KAT6B CL E G H235223047ORPHA148717582605880
HP:0000278HP:0000278Retrognathia0KAT6B CL E G H235223047ORPHA139617582605880
HP:0000278HP:0000278Retrognathia0KIF7 CL E G H3746542189ORPHA181330497611254
HP:0000278HP:0000278Retrognathia0KIF7 CL E G H3746542189ORPHA154030497611254
HP:0000278HP:0000278Retrognathia0KLHL7 CL E G H5597597297ORPHA121115646611119
HP:0000278HP:0000278Retrognathia0KLHL7 CL E G H5597597297ORPHA117615646611119
HP:0000278HP:0000278Retrognathia0KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1876404615620
HP:0000278HP:0000278Retrognathia0KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1966404615620
HP:0000278HP:0000278Retrognathia0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM121125726300964
HP:0000278HP:0000278Retrognathia0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM122025726300964
HP:0000278HP:0000278Retrognathia0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0000278HP:0000278Retrognathia0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17418712608303
HP:0000278HP:0000278Retrognathia0LMNA CL E G H4000212112Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome212112C0796031OMIM113476636150330
HP:0000278HP:0000278Retrognathia0LMNA CL E G H4000212112Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome212112C0796031OMIM114866636150330
HP:0000278HP:0000278Retrognathia0LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM14056717604710
HP:0000278HP:0000278Retrognathia0LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM14746717604710
HP:0000278HP:0000278Retrognathia0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15576814605283
HP:0000278HP:0000278Retrognathia0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15806814605283
HP:0000278HP:0000278Retrognathia0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM187820444611472
HP:0000278HP:0000278Retrognathia0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM199320444611472
HP:0000278HP:0000278Retrognathia0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11157045602616
HP:0000278HP:0000278Retrognathia0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11197045602616
HP:0000278HP:0000278Retrognathia0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM123924862601336
HP:0000278HP:0000278Retrognathia0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM129924862601336
HP:0000278HP:0000278Retrognathia0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM111614508605810
HP:0000278HP:0000278Retrognathia0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM113014508605810
HP:0000278HP:0000278Retrognathia0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17733778615345
HP:0000278HP:0000278Retrognathia0NBN CL E G H4683647ORPHA126407652602667
HP:0000278HP:0000278Retrognathia0NBN CL E G H4683647ORPHA124027652602667
HP:0000278HP:0000278Retrognathia0NDUFB11 CL E G H545392556ORPHA118320372300403
HP:0000278HP:0000278Retrognathia0NDUFB11 CL E G H545392556ORPHA117720372300403
HP:0000278HP:0000278Retrognathia0NFIX CL E G H4784561ORPHA12307788164005
HP:0000278HP:0000278Retrognathia0NFIX CL E G H4784561ORPHA12147788164005
HP:0000278HP:0000278Retrognathia0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM12147788164005
HP:0000278HP:0000278Retrognathia0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM12307788164005
HP:0000278HP:0000278Retrognathia0NSD1 CL E G H643243447ORPHA1124014234606681
HP:0000278HP:0000278Retrognathia0NSD1 CL E G H643243447ORPHA1115414234606681
HP:0000278HP:0000278Retrognathia0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM128913398300275
HP:0000278HP:0000278Retrognathia0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM130313398300275
HP:0000278HP:0000278Retrognathia0ORC1 CL E G H49982554ORPHA11918487601902
HP:0000278HP:0000278Retrognathia0ORC1 CL E G H49982554ORPHA11448487601902
HP:0000278HP:0000278Retrognathia0ORC4 CL E G H50002554ORPHA11438490603056
HP:0000278HP:0000278Retrognathia0ORC4 CL E G H50002554ORPHA11168490603056
HP:0000278HP:0000278Retrognathia0ORC6 CL E G H235942554ORPHA111917151607213
HP:0000278HP:0000278Retrognathia0ORC6 CL E G H235942554ORPHA110117151607213
HP:0000278HP:0000278Retrognathia0OTUD6B CL E G H51633505237ORPHA16124281612021
HP:0000278HP:0000278Retrognathia0OTUD6B CL E G H51633505237ORPHA15624281612021
HP:0000278HP:0000278Retrognathia0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM16124281612021
HP:0000278HP:0000278Retrognathia0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM15624281612021
HP:0000278HP:0000278Retrognathia0PCNT CL E G H51162637HemimegalencephalyORPHA1136116068605925
HP:0000278HP:0000278Retrognathia0PCNT CL E G H51162637HemimegalencephalyORPHA1112616068605925
HP:0000278HP:0000278Retrognathia0PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM1112616068605925
HP:0000278HP:0000278Retrognathia0PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM1136116068605925
HP:0000278HP:0000278Retrognathia0PIEZO2 CL E G H638952461ORPHA170926270613629
HP:0000278HP:0000278Retrognathia0PIEZO2 CL E G H638952461ORPHA167226270613629
HP:0000278HP:0000278Retrognathia0PLAGL1 CL E G H532596191ORPHA1309046603044
HP:0000278HP:0000278Retrognathia0POLR1A CL E G H25885616462Acrofacial dysostosis, Cincinnati type616462C4225317OMIM115917264616404
HP:0000278HP:0000278Retrognathia0POLR1A CL E G H25885616462Acrofacial dysostosis, Cincinnati type616462C4225317OMIM127417264616404
HP:0000278HP:0000278Retrognathia0POLR1C CL E G H9533861ORPHA1113120194610060
HP:0000278HP:0000278Retrognathia0POLR1C CL E G H9533861ORPHA1101920194610060
HP:0000278HP:0000278Retrognathia0POLR1D CL E G H51082861ORPHA18220422613715
HP:0000278HP:0000278Retrognathia0POLR1D CL E G H51082861ORPHA17920422613715
HP:0000278HP:0000278Retrognathia0PREPL CL E G H9581163690ORPHA149530228609557
HP:0000278HP:0000278Retrognathia0PREPL CL E G H9581163690ORPHA139530228609557
HP:0000278HP:0000278Retrognathia0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM19825557610087
HP:0000278HP:0000278Retrognathia0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM111325557610087
HP:0000278HP:0000278Retrognathia0PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1479557604450
HP:0000278HP:0000278Retrognathia0PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1469557604450
HP:0000278HP:0000278Retrognathia0RARB CL E G H5915615524Microphthalmia, syndromic 12615524C3809803OMIM1839865180220
HP:0000278HP:0000278Retrognathia0RARB CL E G H5915615524Microphthalmia, syndromic 12615524C3809803OMIM1869865180220
HP:0000278HP:0000278Retrognathia0RBBP8 CL E G H5932251255Microcephaly with mental retardation and digital anomalies251255C0796063OMIM11579891604124
HP:0000278HP:0000278Retrognathia0RBBP8 CL E G H5932251255Microcephaly with mental retardation and digital anomalies251255C0796063OMIM12119891604124
HP:0000278HP:0000278Retrognathia0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA120134016601428
HP:0000278HP:0000278Retrognathia0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA17634016601428
HP:0000278HP:0000278Retrognathia0RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM113710360603634
HP:0000278HP:0000278Retrognathia0RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM116410360603634
HP:0000278HP:0000278Retrognathia0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM111110402603474
HP:0000278HP:0000278Retrognathia0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM112310402603474
HP:0000278HP:0000278Retrognathia0RSPO2 CL E G H340419618022HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY618022CN248526OMIM14928583610575
HP:0000278HP:0000278Retrognathia0RSPO2 CL E G H340419618022HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY618022CN248526OMIM14828583610575
HP:0000278HP:0000278Retrognathia0RYR1 CL E G H6261169186ORPHA1460410483180901
HP:0000278HP:0000278Retrognathia0RYR1 CL E G H6261169186ORPHA1410110483180901
HP:0000278HP:0000278Retrognathia0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM17910771605593
HP:0000278HP:0000278Retrognathia0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM18210771605593
HP:0000278HP:0000278Retrognathia0SKI CL E G H64972462ORPHA168610896164780
HP:0000278HP:0000278Retrognathia0SKI CL E G H64972462ORPHA162910896164780
HP:0000278HP:0000278Retrognathia0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM17320662608744
HP:0000278HP:0000278Retrognathia0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM17820662608744
HP:0000278HP:0000278Retrognathia0SLC3A1 CL E G H6519163690ORPHA129511025104614
HP:0000278HP:0000278Retrognathia0SLC3A1 CL E G H6519163690ORPHA126511025104614
HP:0000278HP:0000278Retrognathia0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM112611056601019
HP:0000278HP:0000278Retrognathia0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM19111056601019
HP:0000278HP:0000278Retrognathia0SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM18020318608488
HP:0000278HP:0000278Retrognathia0SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM18120318608488
HP:0000278HP:0000278Retrognathia0SPEG CL E G H10290169186ORPHA163716901615950
HP:0000278HP:0000278Retrognathia0SPEG CL E G H10290169186ORPHA126516901615950
HP:0000278HP:0000278Retrognathia0SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM126516901615950
HP:0000278HP:0000278Retrognathia0SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM163716901615950
HP:0000278HP:0000278Retrognathia0SUZ12 CL E G H235123447ORPHA19317101606245
HP:0000278HP:0000278Retrognathia0SUZ12 CL E G H235123447ORPHA18817101606245
HP:0000278HP:0000278Retrognathia0TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0000278HP:0000278Retrognathia0TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0000278HP:0000278Retrognathia0TCOF1 CL E G H6949861ORPHA143811654606847
HP:0000278HP:0000278Retrognathia0TCOF1 CL E G H6949861ORPHA138711654606847
HP:0000278HP:0000278Retrognathia0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0000278HP:0000278Retrognathia0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0000278HP:0000278Retrognathia0TGFB2 CL E G H7042614816Loeys-Dietz syndrome 4614816C3553762OMIM141811768190220
HP:0000278HP:0000278Retrognathia0TGFB2 CL E G H7042614816Loeys-Dietz syndrome 4614816C3553762OMIM145511768190220
HP:0000278HP:0000278Retrognathia0TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM135711769190230
HP:0000278HP:0000278Retrognathia0TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM138711769190230
HP:0000278HP:0000278Retrognathia0TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM161911772190181
HP:0000278HP:0000278Retrognathia0TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM167711772190181
HP:0000278HP:0000278Retrognathia0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM169411773190182
HP:0000278HP:0000278Retrognathia0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM175011773190182
HP:0000278HP:0000278Retrognathia0TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM116128128616183
HP:0000278HP:0000278Retrognathia0TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM110128128616183
HP:0000278HP:0000278Retrognathia0TMEM70 CL E G H549681194ORPHA122026050612418
HP:0000278HP:0000278Retrognathia0TMEM70 CL E G H549681194ORPHA117626050612418
HP:0000278HP:0000278Retrognathia0TTN CL E G H7273169186ORPHA11902812403188840
HP:0000278HP:0000278Retrognathia0TTN CL E G H7273169186ORPHA11798412403188840
HP:0000278HP:0000278Retrognathia0UBE3B CL E G H899102707ORPHA17713478608047
HP:0000278HP:0000278Retrognathia0UBE3B CL E G H899102707ORPHA16913478608047
HP:0000278HP:0000278Retrognathia0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM140129250613602
HP:0000278HP:0000278Retrognathia0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM147429250613602
HP:0000278HP:0000278Retrognathia0WNT5A CL E G H74743107ORPHA110712784164975
HP:0000278HP:0000278Retrognathia0WNT5A CL E G H74743107ORPHA19212784164975
HP:0000278HP:0000278Retrognathia0ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM117421143614064
HP:0000278HP:0000278Retrognathia0ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM121221143614064
HP:0000278HP:0000278Retrognathia0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0000278HP:0000278Retrognathia0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0000278HP:0000278Retrognathia0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM110912309604500
HP:0000278HP:0000278Retrognathia0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM110812309604500
HP:0000278HP:0000308Microretrognathia1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM150723137150
HP:0000278HP:0000308Microretrognathia1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM141723137150
HP:0000278HP:0000308Microretrognathia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0000278HP:0000308Microretrognathia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0000278HP:0000308Microretrognathia1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0000278HP:0000308Microretrognathia1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0000278HP:0000308Microretrognathia1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0000278HP:0000308Microretrognathia1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0000278HP:0000308Microretrognathia1ADAMTS2 CL E G H95091901ORPHA1920218604539
HP:0000278HP:0000308Microretrognathia1ADAMTS2 CL E G H95091901ORPHA11000218604539
HP:0000278HP:0000308Microretrognathia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1394568607246
HP:0000278HP:0000308Microretrognathia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1226568607246
HP:0000278HP:0000308Microretrognathia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0000278HP:0000308Microretrognathia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0000278HP:0000308Microretrognathia1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM117918037609539
HP:0000278HP:0000308Microretrognathia1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM118618037609539
HP:0000278HP:0000308Microretrognathia1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM18416876606036
HP:0000278HP:0000308Microretrognathia1ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM16216876606036
HP:0000278HP:0000308Microretrognathia1ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1122757600582
HP:0000278HP:0000308Microretrognathia1ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM1116757600582
HP:0000278HP:0000308Microretrognathia1ASXL1 CL E G H17102397297ORPHA129818318612990
HP:0000278HP:0000308Microretrognathia1ASXL1 CL E G H17102397297ORPHA138818318612990
HP:0000278HP:0000308Microretrognathia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0000278HP:0000308Microretrognathia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0000278HP:0000308Microretrognathia1ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM117023805612991
HP:0000278HP:0000308Microretrognathia1ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM111123805612991
HP:0000278HP:0000308Microretrognathia1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM179851607027
HP:0000278HP:0000308Microretrognathia1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM193851607027
HP:0000278HP:0000308Microretrognathia1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM121918802608918
HP:0000278HP:0000308Microretrognathia1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM120918802608918
HP:0000278HP:0000308Microretrognathia1BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM112913221606557
HP:0000278HP:0000308Microretrognathia1BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM112513221606557
HP:0000278HP:0000308Microretrognathia1BIN1 CL E G H274169186ORPHA14311052601248
HP:0000278HP:0000308Microretrognathia1BIN1 CL E G H274169186ORPHA14871052601248
HP:0000278HP:0000308Microretrognathia1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM141329426612753
HP:0000278HP:0000308Microretrognathia1CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM134929426612753
HP:0000278HP:0000308Microretrognathia1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM16725523609736
HP:0000278HP:0000308Microretrognathia1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM132225523609736
HP:0000278HP:0000308Microretrognathia1CDC45 CL E G H83182554ORPHA15001739603465
HP:0000278HP:0000308Microretrognathia1CDC45 CL E G H83182554ORPHA15421739603465
HP:0000278HP:0000308Microretrognathia1CDC6 CL E G H9902554ORPHA1711744602627
HP:0000278HP:0000308Microretrognathia1CDC6 CL E G H9902554ORPHA1831744602627
HP:0000278HP:0000308Microretrognathia1CDT1 CL E G H816202554ORPHA121624576605525
HP:0000278HP:0000308Microretrognathia1CDT1 CL E G H816202554ORPHA129324576605525
HP:0000278HP:0000308Microretrognathia1CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM139917272609279
HP:0000278HP:0000308Microretrognathia1CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM134717272609279
HP:0000278HP:0000308Microretrognathia1CEP135 CL E G H9662614673Primary autosomal recessive microcephaly 8614673C3553414OMIM124529086611423
HP:0000278HP:0000308Microretrognathia1CEP135 CL E G H9662614673Primary autosomal recessive microcephaly 8614673C3553414OMIM117629086611423
HP:0000278HP:0000308Microretrognathia1CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM140429298613529
HP:0000278HP:0000308Microretrognathia1CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM133429298613529
HP:0000278HP:0000308Microretrognathia1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM125418622606978
HP:0000278HP:0000308Microretrognathia1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM121118622606978
HP:0000278HP:0000308Microretrognathia1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM12942190120350
HP:0000278HP:0000308Microretrognathia1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM11792190120350
HP:0000278HP:0000308Microretrognathia1COL1A1 CL E G H12771899ORPHA113972197120150
HP:0000278HP:0000308Microretrognathia1COL1A1 CL E G H12771899ORPHA116552197120150
HP:0000278HP:0000308Microretrognathia1COL1A2 CL E G H12781899ORPHA110422198120160
HP:0000278HP:0000308Microretrognathia1COL1A2 CL E G H12781899ORPHA112032198120160
HP:0000278HP:0000308Microretrognathia1COX7B CL E G H13492556ORPHA11712291300885
HP:0000278HP:0000308Microretrognathia1COX7B CL E G H13492556ORPHA11752291300885
HP:0000278HP:0000308Microretrognathia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000278HP:0000308Microretrognathia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000278HP:0000308Microretrognathia1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM1712364604237
HP:0000278HP:0000308Microretrognathia1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11742494602618
HP:0000278HP:0000308Microretrognathia1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11872494602618
HP:0000278HP:0000308Microretrognathia1CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM112828005617057
HP:0000278HP:0000308Microretrognathia1CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM114228005617057
HP:0000278HP:0000308Microretrognathia1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000278HP:0000308Microretrognathia1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000278HP:0000308Microretrognathia1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000278HP:0000308Microretrognathia1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000278HP:0000308Microretrognathia1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000278HP:0000308Microretrognathia1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000278HP:0000308Microretrognathia1DHCR24 CL E G H171835107ORPHA11802859606418
HP:0000278HP:0000308Microretrognathia1DHCR24 CL E G H171835107ORPHA11982859606418
HP:0000278HP:0000308Microretrognathia1DIS3L2 CL E G H1295632849ORPHA1124928648614184
HP:0000278HP:0000308Microretrognathia1DIS3L2 CL E G H1295632849ORPHA1150528648614184
HP:0000278HP:0000308Microretrognathia1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM17529043612666
HP:0000278HP:0000308Microretrognathia1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM18629043612666
HP:0000278HP:0000308Microretrognathia1DVL1 CL E G H18553107ORPHA13473084601365
HP:0000278HP:0000308Microretrognathia1DVL1 CL E G H18553107ORPHA14083084601365
HP:0000278HP:0000308Microretrognathia1DVL3 CL E G H18573107ORPHA11123087601368
HP:0000278HP:0000308Microretrognathia1DVL3 CL E G H18573107ORPHA11413087601368
HP:0000278HP:0000308Microretrognathia1EDN1 CL E G H1906615706Auriculocondylar syndrome 3615706C3810332OMIM1523176131240
HP:0000278HP:0000308Microretrognathia1EDN1 CL E G H1906615706Auriculocondylar syndrome 3615706C3810332OMIM1513176131240
HP:0000278HP:0000308Microretrognathia1EED CL E G H87263447ORPHA1803188605984
HP:0000278HP:0000308Microretrognathia1EED CL E G H87263447ORPHA1863188605984
HP:0000278HP:0000308Microretrognathia1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0000278HP:0000308Microretrognathia1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0000278HP:0000308Microretrognathia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000278HP:0000308Microretrognathia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000278HP:0000308Microretrognathia1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM17313373602700
HP:0000278HP:0000308Microretrognathia1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM16783373602700
HP:0000278HP:0000308Microretrognathia1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000278HP:0000308Microretrognathia1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000278HP:0000308Microretrognathia1ERF CL E G H2077600775Lambdoidal craniosynostosis600775C1833340OMIM11203444611888
HP:0000278HP:0000308Microretrognathia1ERF CL E G H2077600775Lambdoidal craniosynostosis600775C1833340OMIM11113444611888
HP:0000278HP:0000308Microretrognathia1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000278HP:0000308Microretrognathia1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000278HP:0000308Microretrognathia1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM14043519601653
HP:0000278HP:0000308Microretrognathia1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM13673519601653
HP:0000278HP:0000308Microretrognathia1EZH2 CL E G H21463447ORPHA13293527601573
HP:0000278HP:0000308Microretrognathia1EZH2 CL E G H21463447ORPHA13643527601573
HP:0000278HP:0000308Microretrognathia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13643527601573
HP:0000278HP:0000308Microretrognathia1EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM13293527601573
HP:0000278HP:0000308Microretrognathia1FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA124522140611061
HP:0000278HP:0000308Microretrognathia1FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA129122140611061
HP:0000278HP:0000308Microretrognathia1FBN1 CL E G H22002462ORPHA149683603134797
HP:0000278HP:0000308Microretrognathia1FBN1 CL E G H22002462ORPHA154573603134797
HP:0000278HP:0000308Microretrognathia1FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM154573603134797
HP:0000278HP:0000308Microretrognathia1FBN1 CL E G H2200616914Marfan lipodystrophy syndrome616914C4310796OMIM149683603134797
HP:0000278HP:0000308Microretrognathia1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM154573603134797
HP:0000278HP:0000308Microretrognathia1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM149683603134797
HP:0000278HP:0000308Microretrognathia1FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM14863702300163
HP:0000278HP:0000308Microretrognathia1FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM14373702300163
HP:0000278HP:0000308Microretrognathia1FOXE1 CL E G H23041226Cervical hypertrichosis peripheral neuropathyORPHA1693806602617
HP:0000278HP:0000308Microretrognathia1FOXE1 CL E G H23041226Cervical hypertrichosis peripheral neuropathyORPHA1703806602617
HP:0000278HP:0000308Microretrognathia1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13693823605515
HP:0000278HP:0000308Microretrognathia1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM13523823605515
HP:0000278HP:0000308Microretrognathia1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM133629007300838
HP:0000278HP:0000308Microretrognathia1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM131829007300838
HP:0000278HP:0000308Microretrognathia1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM117724678610966
HP:0000278HP:0000308Microretrognathia1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM115224678610966
HP:0000278HP:0000308Microretrognathia1FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM1584019602589
HP:0000278HP:0000308Microretrognathia1FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM1664019602589
HP:0000278HP:0000308Microretrognathia1FZD2 CL E G H25353107ORPHA1374040600667
HP:0000278HP:0000308Microretrognathia1FZD2 CL E G H25353107ORPHA1544040600667
HP:0000278HP:0000308Microretrognathia1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12694177606463
HP:0000278HP:0000308Microretrognathia1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12614177606463
HP:0000278HP:0000308Microretrognathia1GMNN CL E G H510532554ORPHA13917493602842
HP:0000278HP:0000308Microretrognathia1GMNN CL E G H510532554ORPHA14517493602842
HP:0000278HP:0000308Microretrognathia1HBA1 CL E G H303998791ORPHA13694823141800
HP:0000278HP:0000308Microretrognathia1HBA1 CL E G H303998791ORPHA13754823141800
HP:0000278HP:0000308Microretrognathia1HBA2 CL E G H304098791ORPHA13034824141850
HP:0000278HP:0000308Microretrognathia1HBA2 CL E G H304098791ORPHA13204824141850
HP:0000278HP:0000308Microretrognathia1HCCS CL E G H30522556ORPHA12144837300056
HP:0000278HP:0000308Microretrognathia1HCCS CL E G H30522556ORPHA12204837300056
HP:0000278HP:0000308Microretrognathia1HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM128713315300269
HP:0000278HP:0000308Microretrognathia1HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM126913315300269
HP:0000278HP:0000308Microretrognathia1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM15605213601860
HP:0000278HP:0000308Microretrognathia1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM16395213601860
HP:0000278HP:0000308Microretrognathia1HYLS1 CL E G H2198442189ORPHA117726558610693
HP:0000278HP:0000308Microretrognathia1HYLS1 CL E G H2198442189ORPHA119926558610693
HP:0000278HP:0000308Microretrognathia1HYMAI CL E G H5706196191ORPHA1165326606546
HP:0000278HP:0000308Microretrognathia1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0000278HP:0000308Microretrognathia1IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0000278HP:0000308Microretrognathia1IGBP1 CL E G H347652055ORPHA11535461300139
HP:0000278HP:0000308Microretrognathia1IGBP1 CL E G H347652055ORPHA11565461300139
HP:0000278HP:0000308Microretrognathia1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11565461300139
HP:0000278HP:0000308Microretrognathia1IGBP1 CL E G H3476300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia300472C1845446OMIM11535461300139
HP:0000278HP:0000308Microretrognathia1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM16625465147370
HP:0000278HP:0000308Microretrognathia1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM16805465147370
HP:0000278HP:0000308Microretrognathia1IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM1875466147470
HP:0000278HP:0000308Microretrognathia1IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM1785466147470
HP:0000278HP:0000308Microretrognathia1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154937276614631
HP:0000278HP:0000308Microretrognathia1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154537276614631
HP:0000278HP:0000308Microretrognathia1ITGA8 CL E G H8516191830Renal adysplasia191830C1619700OMIM11526144604063
HP:0000278HP:0000308Microretrognathia1ITGA8 CL E G H8516191830Renal adysplasia191830C1619700OMIM11446144604063
HP:0000278HP:0000308Microretrognathia1KAT6B CL E G H235223047ORPHA139617582605880
HP:0000278HP:0000308Microretrognathia1KAT6B CL E G H235223047ORPHA148717582605880
HP:0000278HP:0000308Microretrognathia1KIF7 CL E G H3746542189ORPHA154030497611254
HP:0000278HP:0000308Microretrognathia1KIF7 CL E G H3746542189ORPHA181330497611254
HP:0000278HP:0000308Microretrognathia1KLHL7 CL E G H5597597297ORPHA117615646611119
HP:0000278HP:0000308Microretrognathia1KLHL7 CL E G H5597597297ORPHA121115646611119
HP:0000278HP:0000308Microretrognathia1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1966404615620
HP:0000278HP:0000308Microretrognathia1KPTN CL E G H11133615637Mental retardation, autosomal recessive 41615637C3810225OMIM1876404615620
HP:0000278HP:0000308Microretrognathia1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM122025726300964
HP:0000278HP:0000308Microretrognathia1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM121125726300964
HP:0000278HP:0000308Microretrognathia1LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17418712608303
HP:0000278HP:0000308Microretrognathia1LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0000278HP:0000308Microretrognathia1LMNA CL E G H4000212112Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome212112C0796031OMIM114866636150330
HP:0000278HP:0000308Microretrognathia1LMNA CL E G H4000212112Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome212112C0796031OMIM113476636150330
HP:0000278HP:0000308Microretrognathia1LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM14746717604710
HP:0000278HP:0000308Microretrognathia1LTBP4 CL E G H8425613177Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities613177C2750804OMIM14056717604710
HP:0000278HP:0000308Microretrognathia1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15806814605283
HP:0000278HP:0000308Microretrognathia1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15576814605283
HP:0000278HP:0000308Microretrognathia1MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM199320444611472
HP:0000278HP:0000308Microretrognathia1MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM187820444611472
HP:0000278HP:0000308Microretrognathia1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11197045602616
HP:0000278HP:0000308Microretrognathia1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11157045602616
HP:0000278HP:0000308Microretrognathia1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM129924862601336
HP:0000278HP:0000308Microretrognathia1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM123924862601336
HP:0000278HP:0000308Microretrognathia1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM113014508605810
HP:0000278HP:0000308Microretrognathia1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM111614508605810
HP:0000278HP:0000308Microretrognathia1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17733778615345
HP:0000278HP:0000308Microretrognathia1NBN CL E G H4683647ORPHA124027652602667
HP:0000278HP:0000308Microretrognathia1NBN CL E G H4683647ORPHA126407652602667
HP:0000278HP:0000308Microretrognathia1NDUFB11 CL E G H545392556ORPHA117720372300403
HP:0000278HP:0000308Microretrognathia1NDUFB11 CL E G H545392556ORPHA118320372300403
HP:0000278HP:0000308Microretrognathia1NFIX CL E G H4784561ORPHA12147788164005
HP:0000278HP:0000308Microretrognathia1NFIX CL E G H4784561ORPHA12307788164005
HP:0000278HP:0000308Microretrognathia1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM12307788164005
HP:0000278HP:0000308Microretrognathia1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM12147788164005
HP:0000278HP:0000308Microretrognathia1NSD1 CL E G H643243447ORPHA1115414234606681
HP:0000278HP:0000308Microretrognathia1NSD1 CL E G H643243447ORPHA1124014234606681
HP:0000278HP:0000308Microretrognathia1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM130313398300275
HP:0000278HP:0000308Microretrognathia1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM128913398300275
HP:0000278HP:0000308Microretrognathia1ORC1 CL E G H49982554ORPHA11448487601902
HP:0000278HP:0000308Microretrognathia1ORC1 CL E G H49982554ORPHA11918487601902
HP:0000278HP:0000308Microretrognathia1ORC4 CL E G H50002554ORPHA11168490603056
HP:0000278HP:0000308Microretrognathia1ORC4 CL E G H50002554ORPHA11438490603056
HP:0000278HP:0000308Microretrognathia1ORC6 CL E G H235942554ORPHA110117151607213
HP:0000278HP:0000308Microretrognathia1ORC6 CL E G H235942554ORPHA111917151607213
HP:0000278HP:0000308Microretrognathia1OTUD6B CL E G H51633505237ORPHA15624281612021
HP:0000278HP:0000308Microretrognathia1OTUD6B CL E G H51633505237ORPHA16124281612021
HP:0000278HP:0000308Microretrognathia1OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM15624281612021
HP:0000278HP:0000308Microretrognathia1OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM16124281612021
HP:0000278HP:0000308Microretrognathia1PCNT CL E G H51162637HemimegalencephalyORPHA1112616068605925
HP:0000278HP:0000308Microretrognathia1PCNT CL E G H51162637HemimegalencephalyORPHA1136116068605925
HP:0000278HP:0000308Microretrognathia1PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM1136116068605925
HP:0000278HP:0000308Microretrognathia1PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM1112616068605925
HP:0000278HP:0000308Microretrognathia1PIEZO2 CL E G H638952461ORPHA167226270613629
HP:0000278HP:0000308Microretrognathia1PIEZO2 CL E G H638952461ORPHA170926270613629
HP:0000278HP:0000308Microretrognathia1PLAGL1 CL E G H532596191ORPHA1309046603044
HP:0000278HP:0000308Microretrognathia1POLR1A CL E G H25885616462Acrofacial dysostosis, Cincinnati type616462C4225317OMIM127417264616404
HP:0000278HP:0000308Microretrognathia1POLR1A CL E G H25885616462Acrofacial dysostosis, Cincinnati type616462C4225317OMIM115917264616404
HP:0000278HP:0000308Microretrognathia1POLR1C CL E G H9533861ORPHA1101920194610060
HP:0000278HP:0000308Microretrognathia1POLR1C CL E G H9533861ORPHA1113120194610060
HP:0000278HP:0000308Microretrognathia1POLR1D CL E G H51082861ORPHA17920422613715
HP:0000278HP:0000308Microretrognathia1POLR1D CL E G H51082861ORPHA18220422613715
HP:0000278HP:0000308Microretrognathia1PREPL CL E G H9581163690ORPHA139530228609557
HP:0000278HP:0000308Microretrognathia1PREPL CL E G H9581163690ORPHA149530228609557
HP:0000278HP:0000308Microretrognathia1PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM111325557610087
HP:0000278HP:0000308Microretrognathia1PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM19825557610087
HP:0000278HP:0000308Microretrognathia1PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1469557604450
HP:0000278HP:0000308Microretrognathia1PSMD12 CL E G H5718617516Stankiewicz-Isidor syndrome617516C4479599OMIM1479557604450
HP:0000278HP:0000308Microretrognathia1RARB CL E G H5915615524Microphthalmia, syndromic 12615524C3809803OMIM1869865180220
HP:0000278HP:0000308Microretrognathia1RARB CL E G H5915615524Microphthalmia, syndromic 12615524C3809803OMIM1839865180220
HP:0000278HP:0000308Microretrognathia1RBBP8 CL E G H5932251255Microcephaly with mental retardation and digital anomalies251255C0796063OMIM12119891604124
HP:0000278HP:0000308Microretrognathia1RBBP8 CL E G H5932251255Microcephaly with mental retardation and digital anomalies251255C0796063OMIM11579891604124
HP:0000278HP:0000308Microretrognathia1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA17634016601428
HP:0000278HP:0000308Microretrognathia1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA120134016601428
HP:0000278HP:0000308Microretrognathia1RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM116410360603634
HP:0000278HP:0000308Microretrognathia1RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM113710360603634
HP:0000278HP:0000308Microretrognathia1RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM112310402603474
HP:0000278HP:0000308Microretrognathia1RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM111110402603474
HP:0000278HP:0000308Microretrognathia1RSPO2 CL E G H340419618022HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY618022CN248526OMIM14828583610575
HP:0000278HP:0000308Microretrognathia1RSPO2 CL E G H340419618022HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY618022CN248526OMIM14928583610575
HP:0000278HP:0000308Microretrognathia1RYR1 CL E G H6261169186ORPHA1410110483180901
HP:0000278HP:0000308Microretrognathia1RYR1 CL E G H6261169186ORPHA1460410483180901
HP:0000278HP:0000308Microretrognathia1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM18210771605593
HP:0000278HP:0000308Microretrognathia1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM17910771605593
HP:0000278HP:0000308Microretrognathia1SKI CL E G H64972462ORPHA162910896164780
HP:0000278HP:0000308Microretrognathia1SKI CL E G H64972462ORPHA168610896164780
HP:0000278HP:0000308Microretrognathia1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM17820662608744
HP:0000278HP:0000308Microretrognathia1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM17320662608744
HP:0000278HP:0000308Microretrognathia1SLC3A1 CL E G H6519163690ORPHA126511025104614
HP:0000278HP:0000308Microretrognathia1SLC3A1 CL E G H6519163690ORPHA129511025104614
HP:0000278HP:0000308Microretrognathia1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM19111056601019
HP:0000278HP:0000308Microretrognathia1SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM112611056601019
HP:0000278HP:0000308Microretrognathia1SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM18120318608488
HP:0000278HP:0000308Microretrognathia1SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM18020318608488
HP:0000278HP:0000308Microretrognathia1SPEG CL E G H10290169186ORPHA126516901615950
HP:0000278HP:0000308Microretrognathia1SPEG CL E G H10290169186ORPHA163716901615950
HP:0000278HP:0000308Microretrognathia1SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM163716901615950
HP:0000278HP:0000308Microretrognathia1SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM126516901615950
HP:0000278HP:0000308Microretrognathia1SUZ12 CL E G H235123447ORPHA18817101606245
HP:0000278HP:0000308Microretrognathia1SUZ12 CL E G H235123447ORPHA19317101606245
HP:0000278HP:0000308Microretrognathia1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0000278HP:0000308Microretrognathia1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0000278HP:0000308Microretrognathia1TCOF1 CL E G H6949861ORPHA138711654606847
HP:0000278HP:0000308Microretrognathia1TCOF1 CL E G H6949861ORPHA143811654606847
HP:0000278HP:0000308Microretrognathia1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA114824519613847
HP:0000278HP:0000308Microretrognathia1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA125624519613847
HP:0000278HP:0000308Microretrognathia1TGFB2 CL E G H7042614816Loeys-Dietz syndrome 4614816C3553762OMIM145511768190220
HP:0000278HP:0000308Microretrognathia1TGFB2 CL E G H7042614816Loeys-Dietz syndrome 4614816C3553762OMIM141811768190220
HP:0000278HP:0000308Microretrognathia1TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM138711769190230
HP:0000278HP:0000308Microretrognathia1TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM135711769190230
HP:0000278HP:0000308Microretrognathia1TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM167711772190181
HP:0000278HP:0000308Microretrognathia1TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM161911772190181
HP:0000278HP:0000308Microretrognathia1TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM175011773190182
HP:0000278HP:0000308Microretrognathia1TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM169411773190182
HP:0000278HP:0000308Microretrognathia1TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM110128128616183
HP:0000278HP:0000308Microretrognathia1TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM116128128616183
HP:0000278HP:0000308Microretrognathia1TMEM70 CL E G H549681194ORPHA117626050612418
HP:0000278HP:0000308Microretrognathia1TMEM70 CL E G H549681194ORPHA122026050612418
HP:0000278HP:0000308Microretrognathia1TTN CL E G H7273169186ORPHA11798412403188840
HP:0000278HP:0000308Microretrognathia1TTN CL E G H7273169186ORPHA11902812403188840
HP:0000278HP:0000308Microretrognathia1UBE3B CL E G H899102707ORPHA16913478608047
HP:0000278HP:0000308Microretrognathia1UBE3B CL E G H899102707ORPHA17713478608047
HP:0000278HP:0000308Microretrognathia1WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM147429250613602
HP:0000278HP:0000308Microretrognathia1WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM140129250613602
HP:0000278HP:0000308Microretrognathia1WNT5A CL E G H74743107ORPHA19212784164975
HP:0000278HP:0000308Microretrognathia1WNT5A CL E G H74743107ORPHA110712784164975
HP:0000278HP:0000308Microretrognathia1ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM121221143614064
HP:0000278HP:0000308Microretrognathia1ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM117421143614064
HP:0000278HP:0000308Microretrognathia1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM122324931300897
HP:0000278HP:0000308Microretrognathia1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM121724931300897
HP:0000278HP:0000308Microretrognathia1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM110812309604500
HP:0000278HP:0000308Microretrognathia1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM110912309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000278HP:0000278Retrognathia0ACTA2 CL E G H5991387ORPHA0387130102620
HP:0000278HP:0000278Retrognathia0ACTA2 CL E G H5991387ORPHA0362130102620
HP:0000278HP:0000278Retrognathia0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM0322132102630
HP:0000278HP:0000278Retrognathia0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM0349132102630
HP:0000278HP:0000278Retrognathia0ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM0347144102560
HP:0000278HP:0000278Retrognathia0ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM0370144102560
HP:0000278HP:0000278Retrognathia0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA045219605011
HP:0000278HP:0000278Retrognathia0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA043219605011
HP:0000278HP:0000278Retrognathia0ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM022215672606941
HP:0000278HP:0000278Retrognathia0ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM021215672606941
HP:0000278HP:0000278Retrognathia0AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA026326837300647
HP:0000278HP:0000278Retrognathia0AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA024526837300647
HP:0000278HP:0000278Retrognathia0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01121071112262
HP:0000278HP:0000278Retrognathia0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01291071112262
HP:0000278HP:0000278Retrognathia0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA041329426612753
HP:0000278HP:0000278Retrognathia0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA034929426612753
HP:0000278HP:0000278Retrognathia0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM028118621606977
HP:0000278HP:0000278Retrognathia0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM029718621606977
HP:0000278HP:0000278Retrognathia0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM03473084601365
HP:0000278HP:0000278Retrognathia0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM04083084601365
HP:0000278HP:0000278Retrognathia0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM01123087601368
HP:0000278HP:0000278Retrognathia0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM01413087601368
HP:0000278HP:0000278Retrognathia0ELN CL E G H200691387ORPHA07043327130160
HP:0000278HP:0000278Retrognathia0ELN CL E G H200691387ORPHA06573327130160
HP:0000278HP:0000278Retrognathia0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM029428957616846
HP:0000278HP:0000278Retrognathia0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM052528957616846
HP:0000278HP:0000278Retrognathia0EYA1 CL E G H2138107Pneumonia, eosinophilicORPHA04043519601653
HP:0000278HP:0000278Retrognathia0EYA1 CL E G H2138107Pneumonia, eosinophilicORPHA03673519601653
HP:0000278HP:0000278Retrognathia0FANCB CL E G H21873412ORPHA04813583300515
HP:0000278HP:0000278Retrognathia0FANCB CL E G H21873412ORPHA04103583300515
HP:0000278HP:0000278Retrognathia0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA098923109612411
HP:0000278HP:0000278Retrognathia0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA051923109612411
HP:0000278HP:0000278Retrognathia0FBN1 CL E G H220091387ORPHA054573603134797
HP:0000278HP:0000278Retrognathia0FBN1 CL E G H220091387ORPHA049683603134797
HP:0000278HP:0000278Retrognathia0FOXE3 CL E G H230191387ORPHA01763808601094
HP:0000278HP:0000278Retrognathia0FOXE3 CL E G H230191387ORPHA01523808601094
HP:0000278HP:0000278Retrognathia0GLDN CL E G H342035617194Lethal congenital contracture syndrome 11617194C4310670OMIM08129514608603
HP:0000278HP:0000278Retrognathia0INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM07929239610621
HP:0000278HP:0000278Retrognathia0INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM06129239610621
HP:0000278HP:0000278Retrognathia0LOX CL E G H401591387ORPHA01656664153455
HP:0000278HP:0000278Retrognathia0LOX CL E G H401591387ORPHA01206664153455
HP:0000278HP:0000278Retrognathia0MAT2A CL E G H414491387ORPHA01156904601468
HP:0000278HP:0000278Retrognathia0MAT2A CL E G H414491387ORPHA01076904601468
HP:0000278HP:0000278Retrognathia0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM03553233604267
HP:0000278HP:0000278Retrognathia0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM04213233604267
HP:0000278HP:0000278Retrognathia0MFAP5 CL E G H807691387ORPHA013329673601103
HP:0000278HP:0000278Retrognathia0MFAP5 CL E G H807691387ORPHA011729673601103
HP:0000278HP:0000278Retrognathia0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM06316002609188
HP:0000278HP:0000278Retrognathia0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM09216002609188
HP:0000278HP:0000278Retrognathia0MYH11 CL E G H462991387ORPHA024637569160745
HP:0000278HP:0000278Retrognathia0MYH11 CL E G H462991387ORPHA023297569160745
HP:0000278HP:0000278Retrognathia0MYLK CL E G H463891387ORPHA012087590600922
HP:0000278HP:0000278Retrognathia0MYLK CL E G H463891387ORPHA010927590600922
HP:0000278HP:0000278Retrognathia0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA04078923606879
HP:0000278HP:0000278Retrognathia0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA02818923606879
HP:0000278HP:0000278Retrognathia0PRKG1 CL E G H559291387ORPHA04319414176894
HP:0000278HP:0000278Retrognathia0PRKG1 CL E G H559291387ORPHA03909414176894
HP:0000278HP:0000278Retrognathia0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA039919129610936
HP:0000278HP:0000278Retrognathia0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA035619129610936
HP:0000278HP:0000278Retrognathia0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM042410257602337
HP:0000278HP:0000278Retrognathia0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM035510257602337
HP:0000278HP:0000278Retrognathia0SETBP1 CL E G H26040798ORPHA056015573611060
HP:0000278HP:0000278Retrognathia0SETBP1 CL E G H26040798ORPHA032815573611060
HP:0000278HP:0000278Retrognathia0SIX1 CL E G H6495107Pneumonia, eosinophilicORPHA014310887601205
HP:0000278HP:0000278Retrognathia0SIX1 CL E G H6495107Pneumonia, eosinophilicORPHA013610887601205
HP:0000278HP:0000278Retrognathia0SIX5 CL E G H147912107Pneumonia, eosinophilicORPHA012810891600963
HP:0000278HP:0000278Retrognathia0SIX5 CL E G H147912107Pneumonia, eosinophilicORPHA010910891600963
HP:0000278HP:0000278Retrognathia0SMAD3 CL E G H408891387ORPHA07586769603109
HP:0000278HP:0000278Retrognathia0SMAD3 CL E G H4088284984ORPHA07586769603109
HP:0000278HP:0000278Retrognathia0SMAD3 CL E G H408891387ORPHA06966769603109
HP:0000278HP:0000278Retrognathia0SMAD3 CL E G H4088284984ORPHA06966769603109
HP:0000278HP:0000278Retrognathia0SMAD3 CL E G H4088613795Loeys-Dietz syndrome 3613795C3151087OMIM06966769603109
HP:0000278HP:0000278Retrognathia0SMAD3 CL E G H4088613795Loeys-Dietz syndrome 3613795C3151087OMIM07586769603109
HP:0000278HP:0000278Retrognathia0TGFB2 CL E G H704291387ORPHA045511768190220
HP:0000278HP:0000278Retrognathia0TGFB2 CL E G H704291387ORPHA041811768190220
HP:0000278HP:0000278Retrognathia0TGFB3 CL E G H704391387ORPHA038711769190230
HP:0000278HP:0000278Retrognathia0TGFB3 CL E G H704391387ORPHA035711769190230
HP:0000278HP:0000278Retrognathia0TGFBR1 CL E G H704691387ORPHA067711772190181
HP:0000278HP:0000278Retrognathia0TGFBR1 CL E G H704691387ORPHA061911772190181
HP:0000278HP:0000278Retrognathia0TGFBR2 CL E G H704891387ORPHA075011773190182
HP:0000278HP:0000278Retrognathia0TGFBR2 CL E G H704891387ORPHA069411773190182
HP:0000278HP:0000278Retrognathia0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM09212784164975
HP:0000278HP:0000278Retrognathia0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM010712784164975
HP:0000278HP:0000308Microretrognathia1ACTA2 CL E G H5991387ORPHA0362130102620
HP:0000278HP:0000308Microretrognathia1ACTA2 CL E G H5991387ORPHA0387130102620
HP:0000278HP:0000308Microretrognathia1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM0349132102630
HP:0000278HP:0000308Microretrognathia1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM0322132102630
HP:0000278HP:0000308Microretrognathia1ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM0370144102560
HP:0000278HP:0000308Microretrognathia1ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM0347144102560
HP:0000278HP:0000308Microretrognathia1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA043219605011
HP:0000278HP:0000308Microretrognathia1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA045219605011
HP:0000278HP:0000308Microretrognathia1ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM021215672606941
HP:0000278HP:0000308Microretrognathia1ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM022215672606941
HP:0000278HP:0000308Microretrognathia1AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA024526837300647
HP:0000278HP:0000308Microretrognathia1AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA026326837300647
HP:0000278HP:0000308Microretrognathia1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01291071112262
HP:0000278HP:0000308Microretrognathia1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01121071112262
HP:0000278HP:0000308Microretrognathia1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA034929426612753
HP:0000278HP:0000308Microretrognathia1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA041329426612753
HP:0000278HP:0000308Microretrognathia1COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM029718621606977
HP:0000278HP:0000308Microretrognathia1COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM028118621606977
HP:0000278HP:0000308Microretrognathia1DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM04083084601365
HP:0000278HP:0000308Microretrognathia1DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM03473084601365
HP:0000278HP:0000308Microretrognathia1DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM01413087601368
HP:0000278HP:0000308Microretrognathia1DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM01123087601368
HP:0000278HP:0000308Microretrognathia1ELN CL E G H200691387ORPHA06573327130160
HP:0000278HP:0000308Microretrognathia1ELN CL E G H200691387ORPHA07043327130160
HP:0000278HP:0000308Microretrognathia1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM052528957616846
HP:0000278HP:0000308Microretrognathia1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM029428957616846
HP:0000278HP:0000308Microretrognathia1EYA1 CL E G H2138107Pneumonia, eosinophilicORPHA03673519601653
HP:0000278HP:0000308Microretrognathia1EYA1 CL E G H2138107Pneumonia, eosinophilicORPHA04043519601653
HP:0000278HP:0000308Microretrognathia1FANCB CL E G H21873412ORPHA04103583300515
HP:0000278HP:0000308Microretrognathia1FANCB CL E G H21873412ORPHA04813583300515
HP:0000278HP:0000308Microretrognathia1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA051923109612411
HP:0000278HP:0000308Microretrognathia1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA098923109612411
HP:0000278HP:0000308Microretrognathia1FBN1 CL E G H220091387ORPHA049683603134797
HP:0000278HP:0000308Microretrognathia1FBN1 CL E G H220091387ORPHA054573603134797
HP:0000278HP:0000308Microretrognathia1FOXE3 CL E G H230191387ORPHA01523808601094
HP:0000278HP:0000308Microretrognathia1FOXE3 CL E G H230191387ORPHA01763808601094
HP:0000278HP:0000308Microretrognathia1GLDN CL E G H342035617194Lethal congenital contracture syndrome 11617194C4310670OMIM08129514608603
HP:0000278HP:0000308Microretrognathia1INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM06129239610621
HP:0000278HP:0000308Microretrognathia1INTU CL E G H27152617926OROFACIODIGITAL SYNDROME XVII617926CN902091OMIM07929239610621
HP:0000278HP:0000308Microretrognathia1LOX CL E G H401591387ORPHA01206664153455
HP:0000278HP:0000308Microretrognathia1LOX CL E G H401591387ORPHA01656664153455
HP:0000278HP:0000308Microretrognathia1MAT2A CL E G H414491387ORPHA01076904601468
HP:0000278HP:0000308Microretrognathia1MAT2A CL E G H414491387ORPHA01156904601468
HP:0000278HP:0000308Microretrognathia1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM04213233604267
HP:0000278HP:0000308Microretrognathia1MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM03553233604267
HP:0000278HP:0000308Microretrognathia1MFAP5 CL E G H807691387ORPHA011729673601103
HP:0000278HP:0000308Microretrognathia1MFAP5 CL E G H807691387